Marie-Josée Dicaire

Montreal Neurological Hospital and Institute

H指数:6

被引数:175

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Very Low Frequency of SCA27B Among Undiagnosed Cerebellar Ataxia Patients in Peru

在秘鲁未诊断小脑共济失调患者中SCA27B的极低频率

Cerebellum

IF2.4

2026-10-220

PRE

Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia

成人发病小脑共济失调的智利队列中的重复扩展

The Cerebellum

IF0

2025-12-220

PRE

M. Leonor Bustamante; Marcelo Miranda; David Pellerin; Mariana Barreto; Claudia Silva; Ana C. Miranda; Benjamín Pizarro-Galleguillos; Octavio Azaldegui; Valentina Besa; Francisca Canals; María Eugenia Contreras; Marie-Josée Dicaire; Natalia Dominik; Pablo Iruzubieta; Matt C. Danzi; Stephan Zuchner; Henry Houlden; Bernard Brais; Ramiro Fernández; José Fuentes Manríquez; Javiera Gajardo; Javiera León; Camila Melo; Daniela Muñoz-Chesta; Ximena Pizarro; Pablo Rodríguez; Philippe Salles; Camilo Sepúlveda; José Miguel Tirapegui; Daniel Valenzuela; Felipe Vial; Patricia Orellana Pineda; Cristian Garrido; Gonzalo Miranda

FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland

FGF14 (GAA•TTC)重复扩展相关的共济失调SCA27B在芬兰北部较为常见。

Parkinsonism & Related Disorders

IF3.4

2025-07-030

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia

NEUROLOGY-GENETICS

IF3.7

2025-04-011

OAAI

Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Celine; Lamont, Phillipa J.; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josee; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M.; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C.; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia

NEUROLOGY-GENETICS

IF3.7

2024-12-010

OAAI

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

一个常见的侧翼变异与FGF14-SCA27B重复基因座的稳定性增强有关

NATURE GENETICS

IF31.8

2024-06-272

PRE

Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

MOLECULAR BRAIN

IF2.9

2019-06-2026

OAAI

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Polr3a G672E低髓性脑白质营养不良突变纯合子小鼠神经系统异常缺失

MOLECULAR BRAIN

IF2.9

2017-04-1330

OAAI

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation