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Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease

Journal of neurology, 2023-11, Vol.270 (11), p.5545-5560

2023

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Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

Genes, 2022-11, Vol.13 (12), p.2245

2022

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Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Genes, 2021-11, Vol.12 (12), p.1876

2021

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L’atteinte du système nerveux périphérique chez les patients ayant des anticorps anti-GFAP

Revue neurologique, 2024-04, Vol.180, p.S47-S47

2024

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Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families

Brain (London, England : 1878), 2023-05, Vol.146 (5), p.e31-e32

2023

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Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections

Neurophysiologie clinique, 2024-07, Vol.54 (4), p.102984, Article 102984

2024

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3470-3483

2023

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Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

European journal of human genetics : EJHG, 2024-01, Vol.32 (1), p.37-43

2024

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DEFINING THE LANDSCAPE OF TIA1 AND SQSTM1 DIGENIC MYOPATHY

Neuromuscular disorders : NMD, 2024-09, Vol.42, p.43-52

2024

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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Acta neuropathologica, 2022-10, Vol.144 (4), p.707-731

2022

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Brain (London, England : 1878), 2024-05

2024

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A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

Journal of the peripheral nervous system, 2024-06, Vol.29 (2), p.275-278

2024

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Novel Intronic Mutation in IVMA21/I Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

Genes, 2022-11, Vol.13 (12)

2022

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Cerebral Venous Thrombosis Presenting As Subarachnoid Hemorrhage: Clinical Case

European Scientific Journal (Kocani), 2021-06, Vol.17 (21), p.27

2021

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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Neurology. Genetics, 2024-02, Vol.10 (1)

2024

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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Neurology. Genetics, 2023-08, Vol.9 (4), p.e200087-e200087

2023

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Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

Genes, 2022, Vol.13 (12)

2022

Volltextzugriff (PDF)

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Genes, 2021, Vol.12 (12)

2021

Volltextzugriff (PDF)

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Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

L’atteinte du système nerveux périphérique chez les patients ayant des anticorps anti-GFAP

Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families

Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

DEFINING THE LANDSCAPE OF TIA1 AND SQSTM1 DIGENIC MYOPATHY

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

Novel Intronic Mutation in IVMA21/I Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

Cerebral Venous Thrombosis Presenting As Subarachnoid Hemorrhage: Clinical Case

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

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