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Perrier S, Gauquelin L, Wambach JA, Bernard G

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Article de revue

Am J Med Genet A, 188 (2), 2022.

| Liens:

Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

Article de revue

Neurology, 94 (14), 2020.

| Liens:

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

Article de revue

Neurol Genet, 6 (3), 2020.

Résumé | Liens:

Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, Boycott KM, Yoon G

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

Article de revue

Mov Disord Clin Pract, 7 (8), 2020.

Résumé | Liens:

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE, , Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Article de revue

Acta Neuropathol, 138 (6), 2019.

Résumé | Liens:

Bernard G, Gauquelin L, Andermann F

Ring Chromosome 20

Chapitre de livre

E, Trinka; R, Guerrini; S, Shorvon; S, Schachter (Ed.): The causes of epilepsy : diagnosis and investigation, p. 435-438, New York, NY, Cambridge University Press, 2019, ISBN: 9781108420754.

| Liens:

Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C, , Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Article de revue

Neurol Genet, 5 (6), 2019.

Résumé | Liens:

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C, , Vanderver A, Bernard G

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

Article de revue

Clin Genet, 93 (2), 2018.

Résumé | Liens:

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Article de revue

Am J Hum Genet, 102 (4), 2018.

Résumé | Liens:

Sahly A, Gauquelin L, Sébire G

Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin

Article de revue

Child Neurol Open, 4 , 2017.

Résumé | Liens:

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