Xavier Ferrer
Bordeaux, France
Last Updated: 09/26/2026
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Found 13 publications
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Journal: European journal of neurology
Published: July 14, 2017
Fatal familial insomnia: a video-polysomnographic case report.
Journal: Sleep medicine
Published: December 02, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.
Journal: Journal of neuromuscular diseases
Published: November 18, 2016
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
Journal: Muscle & nerve
Published: March 19, 2015
Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON).
Journal: Revue neurologique
Published: January 20, 2015
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Journal: Orphanet journal of rare diseases
Published: October 14, 2014
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
Journal: PloS one
Published: September 22, 2014
Systemic capillary leak syndrome in an 85-year-old man (Clarkson's syndrome).
Journal: Revue neurologique
Published: March 19, 2014
Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients
Journal: Revue neurologique
Published: March 12, 2013
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
Journal: Journal of the peripheral nervous system : JPNS
Published: February 14, 2013
Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy.
Journal: Journal of the peripheral nervous system : JPNS
Published: April 03, 2012
Last Updated: 09/26/2026