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Brain : a Journal of Neurology
|
February 9, 2023
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
Arnaud Jacquier, Julian Theuriet, Shams Ribault, et al.
Neuromuscular Disorders : NMD
|
December 5, 2006
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
Andoni Echaniz-Laguna, Bertrand Degos, Céline Bonnet, et al.
Neuromuscular Disorders : NMD
|
April 9, 2008
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings
Marc Bitoun, Tanya Stojkovic, Bernard Prudhon, et al.
Journal of Neuropathology and Experimental Neurology
|
December 8, 2004
Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion
Anne Vital, Claude Vital, Philippe Latour, et al.
Journal of Neurology
|
June 3, 2025
Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study
Mathieu Dupré, Ruben Hermann, Léo Vidoni, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
November 9, 2021
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
Emilien Bernard, Antoine Pegat, Anne-Evelyne Vallet, et al.
Dementia and Geriatric Cognitive Disorders
|
September 28, 2018
C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia
Anthony Fourier, Maité Formaglio, Mathilde Sauvée, et al.
Muscle & Nerve
|
August 21, 2003
Inflammatory demyelination in a patient with CMT1A
Anne Vital, Claude Vital, Alain Lagueny, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2002
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders
Rafaëlle Bernard, Amandine Boyer, Philippe Nègre, et al.
Journal of the Peripheral Nervous System : JPNS
|
February 11, 2005
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients
Alzira A S Carvalho, Anne Vital, Xavier Ferrer, et al.
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of 8
Search research articles
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Showing results (11-20 of 74) with videos related to
Sort By:
Page
of 8
Brain : a Journal of Neurology
|
February 9, 2023
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
Arnaud Jacquier, Julian Theuriet, Shams Ribault, et al.
Neuromuscular Disorders : NMD
|
December 5, 2006
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
Andoni Echaniz-Laguna, Bertrand Degos, Céline Bonnet, et al.
Neuromuscular Disorders : NMD
|
April 9, 2008
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings
Marc Bitoun, Tanya Stojkovic, Bernard Prudhon, et al.
Journal of Neuropathology and Experimental Neurology
|
December 8, 2004
Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion
Anne Vital, Claude Vital, Philippe Latour, et al.
Journal of Neurology
|
June 3, 2025
Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study
Mathieu Dupré, Ruben Hermann, Léo Vidoni, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
November 9, 2021
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
Emilien Bernard, Antoine Pegat, Anne-Evelyne Vallet, et al.
Dementia and Geriatric Cognitive Disorders
|
September 28, 2018
C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia
Anthony Fourier, Maité Formaglio, Mathilde Sauvée, et al.
Muscle & Nerve
|
August 21, 2003
Inflammatory demyelination in a patient with CMT1A
Anne Vital, Claude Vital, Alain Lagueny, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2002
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders
Rafaëlle Bernard, Amandine Boyer, Philippe Nègre, et al.
Journal of the Peripheral Nervous System : JPNS
|
February 11, 2005
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients
Alzira A S Carvalho, Anne Vital, Xavier Ferrer, et al.
Page
of 8