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Neuromuscular Disorders : NMD
|
November 3, 2023
Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development
Claudia Côté, Bernard Brais, Charles Sèbiyo Batcho, et al.
Cerebellum (London, England)
|
April 26, 2023
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
Isabelle Lessard, Isabelle Côté, Raphaël St-Gelais, et al.
Neuropediatrics
|
October 25, 2014
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome
Roberta La Piana, Luan T Tran, Kether Guerrero, et al.
Parkinsonism & Related Disorders
|
July 7, 2025
FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland
Laura Kytövuori, David Pellerin, Mikko Kärppä, et al.
Journal of Child Neurology
|
October 10, 2013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
Roberta La Piana, Davide Tonduti, Heather Gordish Dressman, et al.
Neuromuscular Disorders : NMD
|
March 14, 2008
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
Nicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, et al.
Molecular Brain
|
March 15, 2019
Sacs R272C missense homozygous mice develop an ataxia phenotype
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, et al.
The Journal of Biological Chemistry
|
April 22, 2011
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, et al.
JCI Insight
|
May 9, 2023
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Andrea Del Bondio, Fabiana Longo, Daniele De Ritis, et al.
Journal of the Neurological Sciences
|
December 3, 2014
The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study
Cynthia Gagnon, Caroline Lavoie, Isabelle Lessard, et al.
Page
of 19
Search research articles
Search
Showing results (51-60 of 187) with videos related to
Sort By:
Page
of 19
Neuromuscular Disorders : NMD
|
November 3, 2023
Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development
Claudia Côté, Bernard Brais, Charles Sèbiyo Batcho, et al.
Cerebellum (London, England)
|
April 26, 2023
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
Isabelle Lessard, Isabelle Côté, Raphaël St-Gelais, et al.
Neuropediatrics
|
October 25, 2014
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome
Roberta La Piana, Luan T Tran, Kether Guerrero, et al.
Parkinsonism & Related Disorders
|
July 7, 2025
FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland
Laura Kytövuori, David Pellerin, Mikko Kärppä, et al.
Journal of Child Neurology
|
October 10, 2013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
Roberta La Piana, Davide Tonduti, Heather Gordish Dressman, et al.
Neuromuscular Disorders : NMD
|
March 14, 2008
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
Nicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, et al.
Molecular Brain
|
March 15, 2019
Sacs R272C missense homozygous mice develop an ataxia phenotype
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, et al.
The Journal of Biological Chemistry
|
April 22, 2011
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, et al.
JCI Insight
|
May 9, 2023
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Andrea Del Bondio, Fabiana Longo, Daniele De Ritis, et al.
Journal of the Neurological Sciences
|
December 3, 2014
The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study
Cynthia Gagnon, Caroline Lavoie, Isabelle Lessard, et al.
Page
of 19