Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R21NS108015 (SWOBODA, KATHRYN J.) Jun 15, 2018 - May 31, 2020
    NIH/NINDS
    Neural and non-neural contributions to phenotype in human SMA type 1
    Role: Principal Investigator
  2. U01DD001108 (CDC DEFAULT PERSON, CDC DEFAULT PERSON) Sep 1, 2014 - Aug 31, 2019
    CDC/NCBDD
    Comp B-Western Intermountain Regional NMD STARnet
    Role: Co-Principal Investigator
  3. U10NS077305 (SMITH, A. GORDON) Sep 30, 2011 - Aug 31, 2018
    NIH/NINDS
    The Utah Regional Network for Excellence in Neuroscience Clinical Trials
    Role: Co-Principal Investigator
  4. R01HD069045 (SWOBODA, KATHRYN J.) Apr 20, 2011 - Mar 31, 2016
    NIH/NICHD
    Newborn screening for identification &prospective followup of infants with SMA
    Role: Principal Investigator
  5. R01HD054599 (SWOBODA, KATHRYN J.) Jun 1, 2007 - May 31, 2013
    NIH/NICHD
    Therapeutic Opportunities in Spinal Muscular Atrophy
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 Jun 05. PMID: 31168944.
    Citations:    
  2. Baker M, Griggs R, Byrne B, Connolly AM, Finkel R, Grajkowska L, Haidet-Phillips A, Hagerty L, Ostrander R, Orlando L, Swoboda K, Watson M, Howell RR. Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. JAMA Neurol. 2019 May 20. PMID: 31107518.
    Citations:    
  3. Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 May 02; 10(1):2079. PMID: 31048695.
    Citations:    
  4. Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 May 21; 92(21):e2492-e2506. PMID: 31019106.
    Citations:    
  5. Vallabh SM, Nobuhara CK, Llorens F, Zerr I, Parchi P, Capellari S, Kuhn E, Klickstein J, Safar JG, Nery FC, Swoboda KJ, Geschwind MD, Zetterberg H, Arnold SE, Minikel EV, Schreiber SL. Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development. Proc Natl Acad Sci U S A. 2019 Apr 16; 116(16):7793-7798. PMID: 30936307.
    Citations:    
  6. Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar; 138(3):241-256. PMID: 30788592.
    Citations:    
  7. Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 02 15; 10(1):883. PMID: 30770872.
    Citations:    
  8. Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ. Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3. Neurol Genet. 2019 Feb; 5(1):e303. PMID: 30842972.
    Citations:    
  9. Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. PMID: 30397230.
    Citations:    Fields:    
  10. Swoboda KJ, Nery FC. Harnessing the power of the patient perspective for rare disease therapeutics. Neurology. 2018 Sep 25; 91(13):585-586. PMID: 30143562.
    Citations:    Fields:    
  11. Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ. Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. Child Neurol Open. 2018; 5:2329048X18789282. PMID: 30046645.
    Citations:    
  12. Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Contemp Clin Trials Commun. 2018 Sep; 11:113-119. PMID: 30094386.
    Citations:    
  13. Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. PMID: 29922587.
    Citations:    
  14. Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL. Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. Neurobiol Dis. 2018 07; 115:29-38. PMID: 29567111.
    Citations:    Fields:    
  15. Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O. Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14; 377(24):2376-2385. PMID: 29236641.
    Citations:    Fields:    Translation:Humans
  16. Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891. PMID: 29149772.
    Citations: 11     Fields:    Translation:Humans
  17. Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ. Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I. Muscle Nerve. 2018 02; 57(2):193-199. PMID: 28833236.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  18. Paganoni S, Nicholson K, Leigh F, Swoboda K, Chad D, Drake K, Haley K, Cudkowicz M, Berry JD. Developing multidisciplinary clinics for neuromuscular care and research. Muscle Nerve. 2017 Nov; 56(5):848-858. PMID: 28632945.
    Citations: 2     Fields:    Translation:Humans
  19. Kronn DF, Day-Salvatore D, Hwu WL, Jones SA, Nakamura K, Okuyama T, Swoboda KJ, Kishnani PS. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum. Pediatrics. 2017 Jul; 140(Suppl 1):S24-S45. PMID: 29162675.
    Citations: 2     Fields:    Translation:HumansPHPublic Health
  20. Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017 Aug; 73:101-105. PMID: 28647130.
    Citations: 1     Fields:    Translation:Humans
  21. Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. Neurol Genet. 2017 Apr; 3(2):e139. PMID: 28293679.
    Citations: 1     
  22. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017 Mar; 81(3):355-368. PMID: 28026041.
    Citations: 15     Fields:    Translation:HumansAnimals
  23. Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May; 27(5):439-446. PMID: 28284873.
    Citations: 1     Fields:    Translation:HumansCells
  24. Elsheikh BH, Zhang X, Swoboda KJ, Chelnick S, Reyna SP, Kolb SJ, Kissel JT. Pregnancy and delivery in women with spinal muscular atrophy. Int J Neurosci. 2017 Nov; 127(11):953-957. PMID: 28102719.
    Citations:    Fields:    Translation:Humans
  25. Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am J Hum Genet. 2017 02 02; 100(2):297-315. PMID: 28132687.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  26. Thomson AK, Somers E, Powis RA, Shorrock HK, Murphy K, Swoboda KJ, Gillingwater TH, Parson SH. Survival of motor neurone protein is required for normal postnatal development of the spleen. J Anat. 2017 02; 230(2):337-346. PMID: 27726134.
    Citations: 13     Fields:    Translation:HumansAnimals
  27. Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9. PMID: 27558372.
    Citations: 3     Fields:    Translation:HumansAnimals
  28. Lennerz JK, McLaughlin HM, Baron JM, Rasmussen D, Sumbada Shin M, Berners-Lee N, Miller Batten J, Swoboda KJ, Gala MK, Winter HS, Schmahmann JD, Sweetser DA, Boswell M, Pacula M, Stenzinger A, Le LP, Hynes W, Rehm HL, Klibanski A, Black-Schaffer SW, Golden JA, Louis DN, Weiss ST, Iafrate AJ. Health Care Infrastructure for Financially Sustainable Clinical Genomics. J Mol Diagn. 2016 09; 18(5):697-706. PMID: 27471182.
    Citations: 2     Fields:    Translation:Humans
  29. Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, Newcomb T, Weetall M, Prior TW, Swoboda KJ, Chen KS, Paushkin S. SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. PLoS One. 2016; 11(3):e0150640. PMID: 26953792.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  30. Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology. 2016 Mar 08; 86(10):890-7. PMID: 26865511.
    Citations: 79     Fields:    Translation:HumansCTClinical Trials
  31. Haché M, Swoboda KJ, Sethna N, Farrow-Gillespie A, Khandji A, Xia S, Bishop KM. Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience. J Child Neurol. 2016 06; 31(7):899-906. PMID: 26823478.
    Citations: 28     Fields:    Translation:HumansCTClinical Trials
  32. Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016 02; 3(2):132-45. PMID: 26900585.
    Citations: 19     
  33. Davis RH, Miller EA, Zhang RZ, Swoboda KJ. Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. J Pediatr. 2015 Dec; 167(6):1362-8.e1. PMID: 26454573.
    Citations: 1     Fields:    Translation:Humans
  34. Lewelt A, Krosschell KJ, Stoddard GJ, Weng C, Xue M, Marcus RL, Gappmaier E, Viollet L, Johnson BA, White AT, Viazzo-Trussell D, Lopes P, Lane RH, Carey JC, Swoboda KJ. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015 Oct; 52(4):559-67. PMID: 25597614.
    Citations: 8     Fields:    Translation:Humans
  35. Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR, Ptácek LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One. 2015; 10(8):e0137370. PMID: 26322789.
    Citations: 3     Fields:    
  36. Renusch SR, Harshman S, Pi H, Workman E, Wehr A, Li X, Prior TW, Elsheikh BH, Swoboda KJ, Simard LR, Kissel JT, Battle D, Parthun MR, Freitas MA, Kolb SJ. Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults. J Neuromuscul Dis. 2015 Jun 04; 2(2):119-130. PMID: 27858735.
    Citations: 2     Fields:    
  37. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, Incecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. PMID: 26026149.
    Citations: 18     Fields:    Translation:Humans
  38. Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR, Ptácek LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One. 2015; 10(5):e0127045. PMID: 25996915.
    Citations: 11     Fields:    Translation:Humans
  39. Yang B, Qu M, Wang R, Chatterton JE, Liu XB, Zhu B, Narisawa S, Millan JL, Nakanishi N, Swoboda K, Lipton SA, Zhang D. The critical role of membralin in postnatal motor neuron survival and disease. Elife. 2015 May 15; 4. PMID: 25977983.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  40. Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD, Sumner CJ, Ko CP, Lorson CL. Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet. 2015 Jul 15; 24(14):4094-102. PMID: 25911676.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  41. Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015 Jul; 3(4):248-57. PMID: 26247043.
    Citations: 7     Fields:    
  42. Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Ann Neurol. 2015 Apr; 77(4):668-74. PMID: 25612243.
    Citations: 8     Fields:    Translation:Humans
  43. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb; 167A(2):296-312. PMID: 25604658.
    Citations: 72     Fields:    Translation:Humans
  44. Swoboda KJ. Romancing the spliceosome to fight spinal muscular atrophy. N Engl J Med. 2014 Oct 30; 371(18):1752-4. PMID: 25354110.
    Citations:    Fields:    Translation:HumansAnimalsCells
  45. Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014 Dec; 51(12):806-13. PMID: 25342064.
    Citations: 11     Fields:    Translation:HumansCells
  46. Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan; 52(1):56-64. PMID: 25447930.
    Citations: 21     Fields:    Translation:HumansAnimals
  47. Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ. Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91. PMID: 24777552.
    Citations: 3     Fields:    Translation:Humans
  48. Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15; 82(15):1322-30. PMID: 24647030.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  49. Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ. SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy. Muscle Nerve. 2014 Feb; 49(2):187-92. PMID: 23681940.
    Citations: 14     Fields:    Translation:HumansCTClinical Trials
  50. Swoboda KJ. SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet? J Clin Invest. 2014 Feb; 124(2):487-90. PMID: 24463455.
    Citations: 1     Fields:    Translation:AnimalsCells
  51. Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B. Parental permission for pilot newborn screening research: guidelines from the NBSTRN. Pediatrics. 2014 Feb; 133(2):e410-7. PMID: 24394680.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  52. Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther. 2014; 26(2):237-44. PMID: 24675128.
    Citations: 1     Fields:    Translation:HumansAnimals
  53. Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan; 164A(1):17-28. PMID: 24259288.
    Citations: 15     Fields:    Translation:HumansCells
  54. Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat. 2013 Nov; 34(11):1558-67. PMID: 24038877.
    Citations: 12     Fields:    Translation:HumansCells
  55. Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec; 12(12):1159-69. PMID: 24183309.
    Citations: 63     Fields:    Translation:HumansCells
  56. Davis RH, Godshall BJ, Seffrood E, Marcus M, LaSalle BA, Wong B, Schroth MK, Swoboda KJ. Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings. J Child Neurol. 2014 Nov; 29(11):1467-72. PMID: 24097849.
    Citations: 5     Fields:    Translation:Humans
  57. Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014 Mar; 49(3):422-30. PMID: 23836324.
    Citations: 11     Fields:    Translation:Humans
  58. Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. Hum Mutat. 2013 Aug; 34(8):1066-70. PMID: 23592335.
    Citations: 8     Fields:    Translation:HumansCells
  59. Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, Walker MG, Chen KS. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. PMID: 23565191.
    Citations: 7     Fields:    Translation:Humans
  60. Rothwell E, Anderson RA, Swoboda KJ, Stark L, Botkin JR. Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. Am J Med Genet A. 2013 Apr; 161A(4):679-86. PMID: 23443997.
    Citations: 15     Fields:    Translation:HumansPHPublic Health
  61. Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr; 73(4):481-8. PMID: 23440719.
    Citations: 57     Fields:    Translation:HumansCells
  62. Aton J, Davis RH, Jordan KC, Scott CB, Swoboda KJ. Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health. J Child Neurol. 2014 Mar; 29(3):374-80. PMID: 23334077.
    Citations: 1     Fields:    Translation:Humans
  63. Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ. Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. Pediatr Phys Ther. 2013; 25(2):140-8; discussion 149. PMID: 23542189.
    Citations: 2     Fields:    Translation:Humans
  64. Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, Beauvais A, Murphy K, Woulfe J, Screaton RA, Scott FW, Kothary R. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol. 2012 Aug; 72(2):256-68. PMID: 22926856.
    Citations: 38     Fields:    Translation:HumansAnimalsCells
  65. Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptácek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4. PMID: 22842232.
    Citations: 78     Fields:    Translation:HumansAnimalsCells
  66. Poruk KE, Davis RH, Smart AL, Chisum BS, Lasalle BA, Chan GM, Gill G, Reyna SP, Swoboda KJ. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. Neuromuscul Disord. 2012 Nov; 22(11):966-73. PMID: 22832342.
    Citations: 6     Fields:    Translation:Humans
  67. Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May; 13(3):e161-5. PMID: 22198810.
    Citations: 14     Fields:    Translation:Humans
  68. Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One. 2012; 7(4):e33572. PMID: 22558076.
    Citations: 33     Fields:    Translation:HumansCTClinical Trials
  69. Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One. 2012; 7(4):e35462. PMID: 22558154.
    Citations: 17     Fields:    Translation:HumansCTClinical Trials
  70. Lewelt A, Newcomb TM, Swoboda KJ. New therapeutic approaches to spinal muscular atrophy. Curr Neurol Neurosci Rep. 2012 Feb; 12(1):42-53. PMID: 22134788.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  71. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptácek LJ. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12. PMID: 22832103.
    Citations: 69     Fields:    Translation:HumansAnimalsCells
  72. Williams JH, Jayaraman B, Swoboda KJ, Barrett JS. Population pharmacokinetics of valproic acid in pediatric patients with epilepsy: considerations for dosing spinal muscular atrophy patients. J Clin Pharmacol. 2012 Nov; 52(11):1676-88. PMID: 22167565.
    Citations: 4     Fields:    Translation:HumansCTClinical Trials
  73. Swoboda KJ. Of SMN in mice and men: a therapeutic opportunity. J Clin Invest. 2011 Aug; 121(8):2978-81. PMID: 21785213.
    Citations: 2     Fields:    Translation:HumansAnimals
  74. Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ. SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One. 2011; 6(7):e21296. PMID: 21754985.
    Citations: 37     Fields:    Translation:HumansCTClinical Trials
  75. Krosschell KJ, Scott CB, Maczulski JA, Lewelt AJ, Reyna SP, Swoboda KJ. Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve. 2011 Aug; 44(2):246-51. PMID: 21698647.
    Citations: 7     Fields:    Translation:Humans
  76. Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C. A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. Eur J Hum Genet. 2011 Oct; 19(10):1045-51. PMID: 21610747.
    Citations: 10     Fields:    Translation:Humans
  77. Churko JM, Shao Q, Gong XQ, Swoboda KJ, Bai D, Sampson J, Laird DW. Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. Hum Mutat. 2011 Apr; 32(4):456-66. PMID: 21305658.
    Citations: 18     Fields:    Translation:HumansAnimalsCells
  78. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C, Weiss RB. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011 Mar; 32(3):299-308. PMID: 21972111.
    Citations: 29     Fields:    Translation:HumansCells
  79. Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet. 2011 Feb; 79(2):176-82. PMID: 20497190.
    Citations: 8     Fields:    Translation:HumansCells
  80. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96. PMID: 21258341.
    Citations: 135     Fields:    Translation:HumansAnimalsCells
  81. Lewelt A, Krosschell KJ, Scott C, Sakonju A, Kissel JT, Crawford TO, Acsadi G, D'anjou G, Elsheikh B, Reyna SP, Schroth MK, Maczulski JA, Stoddard GJ, Elovic E, Swoboda KJ. Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve. 2010 Nov; 42(5):703-8. PMID: 20737553.
    Citations: 21     Fields:    Translation:HumansCTClinical Trials
  82. Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson SL, Maczulski JA, Bromberg MB, Chan GM, Kissel JT. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One. 2010 Aug 19; 5(8):e12140. PMID: 20808854.
    Citations: 39     Fields:    Translation:Humans
  83. Acsadi G, Li X, Murphy KJ, Swoboda KJ, Parker GC. Alpha-synuclein loss in spinal muscular atrophy. J Mol Neurosci. 2011 Mar; 43(3):275-83. PMID: 20640532.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  84. Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug; 20(8):499-504. PMID: 20630757.
    Citations: 25     Fields:    Translation:Humans
  85. Swoboda KJ. Seize the day: Newborn screening for SMA. Am J Med Genet A. 2010 Jul; 152A(7):1605-7. PMID: 20583173.
    Citations: 6     Fields:    Translation:HumansAnimalsPHPublic Health
  86. Glanzman AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, Scott C, Pane M, Messina S, Bertini E, Mercuri E, Finkel RS. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010 Mar; 20(3):155-61. PMID: 20074952.
    Citations: 22     Fields:    Translation:Humans
  87. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80. PMID: 19764032.
    Citations: 8     Fields:    Translation:HumansCells
  88. Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, Reddy SV. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol. 2009 Sep; 219(1):52-60. PMID: 19434631.
    Citations: 18     Fields:    Translation:AnimalsCells
  89. Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009 Sep; 85(3):408-13. PMID: 19716110.
    Citations: 62     Fields:    Translation:HumansCells
  90. Araujo Ap, Araujo M, Swoboda KJ. Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr. 2009 Aug; 155(2):292-4. PMID: 19619755.
    Citations: 40     Fields:    Translation:Humans
  91. Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, Krosschell KJ, D'Anjou G, Bromberg MB, Schroth MK, Chan GM, Elsheikh B, Simard LR. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One. 2009; 4(5):e5268. PMID: 19440247.
    Citations: 53     Fields:    Translation:HumansCTClinical Trials
  92. Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord. 2009 Apr; 19(4):279-87. PMID: 19318250.
    Citations: 3     Fields:    Translation:HumansCells
  93. Sweney MT, Silver K, Gerard-Blanluet M, Pedespan JM, Renault F, Arzimanoglou A, Schlesinger-Massart M, Lewelt AJ, Reyna SP, Swoboda KJ. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 Mar; 123(3):e534-41. PMID: 19254988.
    Citations: 24     Fields:    Translation:Humans
  94. Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64. PMID: 19181672.
    Citations: 26     Fields:    Translation:Humans
  95. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72. PMID: 18546365.
    Citations: 64     Fields:    Translation:Humans
  96. Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord. 2008 Aug; 18(8):675-7. PMID: 18640039.
    Citations: 4     Fields:    Translation:Humans
  97. Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun; 18(6):453-9. PMID: 18504129.
    Citations: 22     Fields:    Translation:HumansAnimals
  98. Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug; 22(8):957-66. PMID: 17761650.
    Citations: 12     Fields:    Translation:Humans
  99. Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV. Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol. 2007 Aug; 22(8):967-73. PMID: 17761651.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  100. Kostova FV, Williams VC, Heemskerk J, Iannaccone S, Didonato C, Swoboda K, Maria BL. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. J Child Neurol. 2007 Aug; 22(8):926-45. PMID: 17761647.
    Citations: 6     Fields:    Translation:HumansAnimals
  101. Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. J Child Neurol. 2007 Aug; 22(8):1019-26. PMID: 17761658.
    Citations: 7     Fields:    Translation:Humans
  102. Simard LR, Bélanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology. 2007 Feb 06; 68(6):451-6. PMID: 17283322.
    Citations: 17     Fields:    Translation:Humans
  103. Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A. 2006 Dec 15; 140(24):2797-801. PMID: 17103435.
    Citations: 4     Fields:    Translation:Humans
  104. Krosschell KJ, Maczulski JA, Crawford TO, Scott C, Swoboda KJ. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord. 2006 Jul; 16(7):417-26. PMID: 16750368.
    Citations: 17     Fields:    Translation:HumansCTClinical Trials
  105. Sampson JB, Chin SS, Clayton FC, Pestronk A, Swoboda KJ, Flanigan KM. An unusual pathologic feature associated with dermatomyositis. Neuromuscul Disord. 2006 Jun; 16(6):391-3. PMID: 16697198.
    Citations:    Fields:    Translation:Humans
  106. Smith SE, Kinney HC, Swoboda KJ, Levy HL. Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45. PMID: 16574454.
    Citations: 3     Fields:    Translation:Humans
  107. Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005 Nov; 15(11):802-16. PMID: 16202598.
    Citations: 13     Fields:    Translation:HumansAnimals
  108. Denis MM, Tolley ND, Bunting M, Schwertz H, Jiang H, Lindemann S, Yost CC, Rubner FJ, Albertine KH, Swoboda KJ, Fratto CM, Tolley E, Kraiss LW, McIntyre TM, Zimmerman GA, Weyrich AS. Escaping the nuclear confines: signal-dependent pre-mRNA splicing in anucleate platelets. Cell. 2005 Aug 12; 122(3):379-91. PMID: 16096058.
    Citations: 169     Fields:    Translation:HumansCells
  109. Thompson JA, Filloux FM, Van Orman CB, Swoboda K, Peterson P, Firth SD, Bale JF. Infant botulism in the age of botulism immune globulin. Neurology. 2005 Jun 28; 64(12):2029-32. PMID: 15917401.
    Citations: 2     Fields:    Translation:HumansPHPublic Health
  110. Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May; 57(5):704-12. PMID: 15852397.
    Citations: 85     Fields:    Translation:HumansCellsCTClinical Trials
  111. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005 Feb; 42(2):108-20. PMID: 15689448.
    Citations: 32     Fields:    Translation:Humans
  112. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7. PMID: 15623687.
    Citations: 62     Fields:    Translation:Humans
  113. Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A. 2004 Oct 15; 130A(3):307-10. PMID: 15378550.
    Citations: 44     Fields:    Translation:Humans
  114. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7. PMID: 15174025.
    Citations: 27     Fields:    Translation:Humans
  115. Bromberg MB, Swoboda KJ, Lawson VH. Counting motor units in chronic motor neuropathies. Exp Neurol. 2003 Nov; 184 Suppl 1:S53-7. PMID: 14597327.
    Citations: 5     Fields:    Translation:Humans
  116. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct; 35(2):185-9. PMID: 14517542.
    Citations: 38     Fields:    Translation:HumansCells
  117. Bonkowsky JL, Johnson J, Carey JC, Smith AG, Swoboda KJ. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics. 2003 Sep; 112(3 Pt 1):e237-41. PMID: 12949319.
    Citations: 19     Fields:    Translation:Humans
  118. Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003; 54 Suppl 6:S49-55. PMID: 12891654.
    Citations: 8     Fields:    Translation:Humans
  119. Swoboda KJ, Hyland K. Diagnosis and treatment of neurotransmitter-related disorders. Neurol Clin. 2002 Nov; 20(4):1143-61, viii. PMID: 12616685.
    Citations: 7     Fields:    Translation:Humans
  120. Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 2002 Aug 27; 59(4):613-7. PMID: 12196661.
    Citations: 25     Fields:    Translation:HumansCells
  121. Bromberg MB, Swoboda KJ. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar; 25(3):445-7. PMID: 11870724.
    Citations: 18     Fields:    Translation:HumansCells
  122. Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR. V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. J Biol Chem. 2002 Mar 01; 277(9):7136-43. PMID: 11751922.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  123. Swoboda KJ, Soong BW, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000. Neurology. 2001 Dec; 57(11 Suppl 4):S42-8. PMID: 11775608.
    Citations: 3     Fields:    Translation:Humans
  124. Tammur J, Prades C, Arnould I, Rzhetsky A, Hutchinson A, Adachi M, Schuetz JD, Swoboda KJ, Ptácek LJ, Rosier M, Dean M, Allikmets R. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. Gene. 2001 Jul 25; 273(1):89-96. PMID: 11483364.
    Citations: 30     Fields:    Translation:HumansCells
  125. Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30. PMID: 10908896.
    Citations: 19     Fields:    Translation:HumansCells
  126. Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72. PMID: 10619714.
    Citations: 13     Fields:    Translation:HumansCells
  127. Swoboda KJ, Hyland K, Goldstein DS, Kuban KC, Arnold LA, Holmes CS, Levy HL. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology. 1999 Oct 12; 53(6):1205-11. PMID: 10522874.
    Citations: 6     Fields:    Translation:Humans
  128. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct; 23(2):208-12. PMID: 10508519.
    Citations: 71     Fields:    Translation:HumansCells
  129. Goldstein DS, Swoboda KJ, Miles JM, Coppack SW, Aneman A, Holmes C, Lamensdorf I, Eisenhofer G. Sources and physiological significance of plasma dopamine sulfate. J Clin Endocrinol Metab. 1999 Jul; 84(7):2523-31. PMID: 10404831.
    Citations: 23     Fields:    Translation:Humans
  130. Hyland K, Nygaard TG, Trugman JM, Swoboda KJ, Arnold LA, Sparagana SP. Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. J Inherit Metab Dis. 1999 May; 22(3):213-5. PMID: 10384370.
    Citations: 2     Fields:    Translation:Humans
  131. Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11. PMID: 9427229.
    Citations: 3     Fields:    Translation:HumansCells
  132. Chmielnicki Z, Swoboda K, Olejczyk M. [Comparison of anxiety in patients before surgery for varicose veins and laparoscopic cholecystectomy]. Wiad Lek. 1998; 51(3-4):127-31. PMID: 9658986.
    Citations:    Fields:    Translation:HumansCTClinical Trials
  133. Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr. 1997 Dec; 131(6):932-4. PMID: 9427905.
    Citations: 4     Fields:    Translation:Humans
  134. Swoboda KJ, Jenike MA. Frontal abnormalities in a patient with obsessive-compulsive disorder: the role of structural lesions in obsessive-compulsive behavior. Neurology. 1995 Dec; 45(12):2130-4. PMID: 8848180.
    Citations: 2     Fields:    Translation:Humans
  135. Swoboda KJ, Drislane FW. Seizure disorders: syndromes, diagnosis, and management. Compr Ther. 1994; 20(2):67-73. PMID: 8205767.
    Citations:    Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.