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biopsie nerveuseSynonyme(s)nerve biopsy nerve biopsiesVoir aussi |
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ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
Montecchiani C, Pedace L, Lo Giudice T, et al.
Brain, 2016, 139, 1, p 73
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Sevilla T, Sevilla T, Lupo V, et al.
Brain : a journal of neurology, 2016, 139, p 62
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
Thomas FP, Guergueltcheva V, Gondim FA, et al.
Journal of neurology, 2016, 263, 3, p 467
Sur la technique des biopsies musculaires - Un retour historique : About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsies
Fardeau M
médecine/sciences, 2015, 31, HS 3, p 7
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
Auranen M, Ylikallio E, Shcherbii M, et al.
Neurology. Genetics, 2015, 1, 1
Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy.
Mathis S, Funalot B, Boyer O, et al.
Journal of neuropathology and experimental neurology, 2014, 73, 3, p. 223-233
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker
Nobbio L, Visigalli D, Radice D, et al.
Brain : a journal of neurology, 2014, 137, Pt 6, p 1614
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Hong YB, Lee JH, Park JM, et al.
BMC Medical Genetics, 2013, 14, 1, p 125
The various Charcot-Marie-Tooth diseases
Vallat JM, Mathis S, Funalot B
Current opinion in neurology, 2013, 26, p. 473-480
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation
Vital A, Guilhem S, Casenave P, et al.
Journal of the peripheral nervous system, 2013, 18, 2, p.181-184
An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease
Kinter J, Lazzati T, Schmid D, et al.
Neurobiology of disease, 2013, 49, p. 221-231
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA, Abrams CK, Scherer SS
Brain research, 2012, 1487, p. 198-205
Mitochondria and peripheral neuropathies
Vital A, Vital C
Journal of neuropathology and experimental neurology, 2012, 71, 12, p. 1036-1046
X-linked Charcot-Marie-Tooth disease
Scherer SS, Kleopa KA
Journal of the peripheral nervous system, 2012, 17, Suppl. 3, p. 9-13
Examens exploratoires : quand et pour quelles maladies ?
Dupuy-Maury F
VLM. Vaincre les myopathies, 2012, 157, p. 28-31
Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy
Marteyn A, Maury Y, Gauthier MM, et al.
Cell stem cell, 2011, 8, 4, p. 434-444
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes
Nouioua S, Hamadouche T, Funalot B, et al.
Neuromuscular disorders : NMD, 2011, 21, 8, p. 543-550
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis
Benedetti S, Previtali SC, Coviello S, et al.
Archives of neurology, 2010, 67, 12, p. 1498-1505
Spinal muscular atrophy : from animal model to clinical trial
Zanoteli E, Maximino JR, Conti Reed U, et al.
Functional neurology, 2010, 25, 2, p. 73-79
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease
Sivera R, Espinos C, Vilchez JJ, et al.
Journal of the peripheral nervous system, 2010, 15, 4, p. 334-344
Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myologie et de l’Association française contre les myopathies : Management of Muscle and Nerve Biopsies: Expert Guidelines From Two French Professional Societies, Société française De Myologie Et De l'Association française Contre Les Myopathies
Uro-Coste E, Fernandez C, Authier FJ, et al.
Société française de myologie
Revue neurologique (Paris), 2010, 166, 5, p 477
