Harvard Catalyst Profiles

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Stefanie Perrier, Ph.D.

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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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  1. Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, Köhler W, Bernard G. Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults. Neurology. 2022 04 19; 98(16):675-677. PMID: 35190466; PMCID: PMC9052568.
    Citations:    Fields:    Translation:Humans
  2. de Guzman AE, Ahmed M, Perrier S, Hammill C, Li YQ, Wong CS, Nieman BJ. Protection From Radiation-Induced Neuroanatomic Deficits by CCL2 Deficiency Is Dependent on Sex. Int J Radiat Oncol Biol Phys. 2022 06 01; 113(2):390-400. PMID: 35143888.
    Citations:    Fields:    Translation:AnimalsPHPublic Health
  3. Perrier S, Gauquelin L, Wambach JA, Bernard G. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. Am J Med Genet A. 2022 02; 188(2):708-712. PMID: 34773388; PMCID: PMC8758552.
    Citations: 1     Fields:    Translation:Humans
  4. Perrier S, Michell-Robinson MA, Bernard G. POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches. Front Cell Neurosci. 2020; 14:631802. PMID: 33633543; PMCID: PMC7902007.
    Citations: 3     
  5. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674. PMID: 33005949; PMCID: PMC7823228.
    Citations: 7     Fields:    Translation:Humans
  6. Perrier S, Matovic S, Bernard G. Classifying Hypomyelination: A Critical (White) Matter. Child Neurol Open. 2020 Jan-Dec; 7:2329048X20983761. PMID: 33490304; PMCID: PMC7768829.
  7. Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020 Jun; 6(3):e425. PMID: 32582862; PMCID: PMC7238899.
    Citations: 9     
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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.