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CMT forme démyélinisanteSynonyme(s)HMSN formes démyélinisantes ;maladie de Charcot-Marie-Tooth forme démyélinisante ;neuropathie héréditaire sensitivo-motrice démyélinisante demyelinating forms of CMT |
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Gene therapy approaches targeting Schwann cells for demyelinating neuropathies
Sargiannidou I, Kagiava A, Kleopa KA
Brain research, 2020
Regulating PMP22 expression as a dosage sensitive neuropathy gene
Pantera H, Shy ME, Svaren J
Brain research, 2019, 1726
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
Wang H, Kacar Bayram A, Sprute R, et al.
Frontiers in neuroscience, 2019, p 974
Charcot-Marie-Tooth Disease Type 2E/1F Mutant Neurofilament Proteins Assemble into Neurofilaments
Stone EJ, Uchida A, Brown A
Cytoskeleton (Hoboken, N.J.), 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J, Magdelaine C, Lunati A, et al.
Journal of the neurological sciences, 2019, 406
Maladie de Charcot-Marie-Tooth : une échelle fonctionnelle adaptée chez les enfants
Urtizberea JA
2019
Diagnostic moléculaire de la maladie de Charcot-Marie-Tooth en routine : le séquençage de nouvelle génération constitue un indéniable progrès
Urtizberea JA
2019
La CMT-FOM : une nouvelle échelle fonctionnelle disponible dans la maladie de Charcot-Marie-Tooth
Urtizberea JA
2019
Zoom sur... la recherche dans la maladie de Charcot-Marie-Tooth
Myoinfo (AFM-Téléthon), Vallat JM
Zoom sur ..., Savoir & Comprendre, 2019, 46
Relationship between age and nerve dimensions in Charcot-Marie-Tooth disease. Do we know the reality?
Coraci D, Loreti C, Pazzaglia C, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2018
Reply to "Relationship between age and nerve dimensions in Charcot-Marie-Tooth disease. Do we know the reality?"
Fabrizi GM, Tamburin S, Cavallaro T, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2018
Principales maladies neuromusculaires
Brignol TN, Urtizberea JA
Fiche technique, Fiche Technique Savoir & Comprendre "médico-scientifiques", 2017, 60 p.
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement
Kondo D, Shinoda K, Yamashita KI, et al.
Neuromuscular disorders : NMD, 2017, 27, 10, p 959
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
Safka Brozkova D, Paulasova Schwabova J, Neupauerova J, et al.
Journal of human genetics, 2017, 62, 3, p 431
Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
Ruskamo S, Nieminen T, Kristiansen CK, et al.
Scientific Reports, 2017, 7, 1
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E
Wang DS, Wu X, Bai Y, et al.
Annals of clinical and translational neurology, 2017, 4, 4, p 236
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Cornett KM, Menezes MP, Bray P, et al.
JAMA Neurology, 2016, Epub, 7 p.
Peripheral nerve society - Charcot-Marie-Tooth : Congrès du 27 Juin au 2 Juillet 2015, Canada
Collectif
CMTmag, 2016, 102, p 13
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
Brozkova DS, Haberlova J, Mazanec R, et al.
Clinical genetics, 2016, 90, 2, p 161
Impaired differentiation of macrophage lineage cells attenuates bone remodeling and inflammatory angiogenesis in Ndrg1 deficient mice
Watari K, Shibata T, Nabeshima H, et al.
Scientific Reports, 2016, 6
Neuromuscular disorders in Roma (Gypsies)--collaborative studies, epidemiology, community-based carrier testing program and social activities : The Meryon Lecture at the 18th Annual Meeting of the Meryon Society Wolfson College, Oxford, UK, 12th September 2014
Tournev I
Neuromuscular disorders : NMD, 2016, 26, 1, p 94
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies
Grimm A, Vittore D, Schubert V, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2016, 127, 7, p 2618
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F, Azzedine H, Zwerenz E, et al.
Brain and Behavior, 2016, 6, 4
Charcot-Marie-Tooth Neuropathy Type 4C : Synonyms: Charcot-Marie-Tooth Disease Type 4C, CMT4C
Azzedine H, LeGuern E, Salih MA
GeneReviews® [Internet], 2015
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, et al.
Brain : a journal of neurology, 2015, epub, p.1-13
Charcot-Marie-Tooth Neuropathy Type 1 : Synonyms: CMT1, HMSN1, Hereditary Motor and Sensory Neuropathy 1
Bird TD
GeneReviews® [Internet], 2015
Zoom sur...la maladie de Charcot-Marie-Tooth
Myoinfo (AFM-Téléthon)
Zoom sur ..., Savoir & Comprendre, 2015, 104 p.
Demyelinating CMT-what's known, what's new and what's in store?
Brennan KM, Bai Y, Shy ME
Neuroscience letters, 2015, 596, p 14
Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice
Klein D, Patzko A, Schreiber D, et al.
Brain : a journal of neurology, 2015, 138, Pt11, p 3193
Charcot-Marie-Tooth disease and pathways to molecular based therapies
Harel T, Lupski JR
Clinical genetics, 2014, 86, 5, p 422
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
Alazami AM, Alzahrani F, Bohlega S, et al.
Neurology, 2014, 82, 18, p 1665
Vestibular impairment in Charcot-Marie-Tooth disease type 4C
Pérez-Garrigues H, Sivera R, Vilchez JJ, et al.
Journal of neurology, neurosurgery, and psychiatry, 2014, 85, 7, p 824
Revue de la littérature récente sur les neuropathies héréditaires : Review of the Recent Literature on Hereditary Neuropathies
Birouk N
Revue neurologique, 2014, 170, 12, p 846
Maladie de Charcot-Marie-Tooth de type 4H : un modèle de souris déficiente en frabine/Fgd4
Cukierman L
2013
Charcot-Marie-Tooth Neuropathy Type 4J : Synonyms: Charcot-Marie-Tooth Disease Type 4J, CMT4J
Li J
GeneReviews® [Internet], 2013
Maladie de Charcot-Marie-Tooth de type 4 : implication du gène SURF1
VLM. Vaincre les myopathies, 2013, 167, p.18
Charcot-Marie-Tooth Neuropathy Type 4H : Synonyms: Charcot-Marie-Tooth Disease Type 4H, CMT4H
Delague V
GeneReviews® [Internet], 2013
Classification et biologie des maladies de Charcot-Marie-Tooth
Latour P, Weil M
CMTmag, 2013, 90, p. 4-8
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
Echaniz-Laguna A, Ghezzi D, Chassagne M, et al.
Neurology, 2013, 81, 17, p. 1523-1530
Autosomal recessive Charcot-Marie-Tooth disease : from genes to phenotypes
Tazir M, Bellatache M, Nouioua S, et al.
Journal of the peripheral nervous system, 2013, 18, 2, p.113-129
Sexual functioning in women with mild and severe symptoms of Charcot-Marie-Tooth disease
Gargiulo P, Vinci P, Navarro-Cremades F, et al.
Journal of sexual medicine (The), 2013, 10, 7, p. 1800-1806
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
Nakhro K, Park JM, Hong YB, et al.
Neurology, 2013, 81, 2, p. 165-173
CMT4D (NDRG1 mutation) : genotype-phenotype correlations
Ricard E, Mathis S, Magdelaine C, et al.
Journal of the peripheral nervous system, 2013, 18, 3, p. 261-265
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population : the hereditary motor and sensory neuropathy-Russe in depth
Sevilla T, Martinez-Rubio D, Marquez C, et al.
Clinical genetics, 2013, 83, 6, p. 565-570
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
Cottenie E, Menezes MP, Rossor AM, et al.
Neuromuscular disorders : NMD, 2013, 23, 5, p. 399-403
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
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene
Lee SS, Lee HJ, Park JM, et al.
JAMA Neurology, 2013, 70, 5, p. 607-615
Maladie de Charcot-Marie-Tooth de type Russe (CMT 4G) : la deuxième cause de CMT récessive dans la communauté gitane d’Espagne
Urtizberea JA
2012
Maladie de Charcot-Marie-Tooth autosomique récessive de type 4C : à propos d’une cohorte française de 14 patients
Urtizberea JA
2012
Electrodiagnosis in neuromuscular disease
Lipa BM, Han JJ
Physical medicine and rehabilitation clinics of North America, 2012, 23, 3, p. 565-587
Les neuropathies périphériques. Démarche diagnostique (Dossier : Pathologies neuromusculaires. L'évolution des connaissances)
Petiot P
Neurologies, 2012, 15, 147, p. 142-148
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
Safka Brozkova D, Nevsimalova S, Mazanec R, et al.
Neuromuscular disorders : NMD, 2012, 22, 8, p. 742-746
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
Yger M, Stojkovic T, Tardieu S, et al.
Journal of the peripheral nervous system, 2012, 17, 1, p 112
Myelin is dependent on the Charcot-Marie-Tooth type 4H disease culprit protein Frabin/FGD4 in Schwann cells
Horn M, Baumann R, Pereira JA, et al.
Brain, 2012, 135, 12, p. 3567-3583
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)
Baudot C, Esteve C, Castro C, et al.
Journal of the peripheral nervous system, 2012, 17, 2, p. 141-146
Charcot-Marie-Tooth Neuropathy Type 2E/1F : Synonym: CMT2E/1F
De Jonghe P, Jordanova AK
GeneReviews® [Internet], 2011
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways
Lee SM, Olzmann JA, Chin LS, et al.
Journal of cell science, 2011, 124, 19, p. 3319-3331
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
Cassereau J, Chevrollier A, Bonneau D, et al.
Orphanet journal of rare diseases, 2011, 6, 87, p. 1-8
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
Saporta ASD, Sottile SL, Miller LJ, et al.
Annals of neurology, 2011, 69, 1, p. 22-33
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
Nicholson G, Lenk GM, Reddel SW, et al.
Brain, 2011, 134, Pt 7, p. 1959-1971
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies : insights directing future genetic studies
Drew AP, Nicholson GA
Current molecular medicine, 2011, 11, 8, p. 650-665
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial
Seesing FM, Drost G, van der Wilt GJ, et al.
BMC neurology, 2011, 11, 106, p. 1-9
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
d'Ydewalle C, Krishnan J, Chiheb DM, et al.
Nature medicine, 2011, 17, 8, p. 968-974
Outcome measures and rehabilitation treatment in patients affected by charcot-marie-tooth neuropathy: a pilot study
Maggi G, Monti Bragadin M, Padua L, et al.
American journal of physical medicine & rehabilitation, 2011, 90, 8, p. 628-637
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
Montenegro G, Powell E, Huang J, et al.
Annals of neurology, 2011, 63, 3, p. 464-470
Strategy for genetic testing in Charcot-Marie-disease
Miller LJ, Saporta ASD, Sottile SL, et al.
Acta myologica, 2011, 30, 2, p. 109-116
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
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease Type 4C
Roberts RC, Peden AA, Buss F, et al.
Human molecular genetics, 2010, 19, 6, p. 1009-1018
Au pays du Cèdre, une collaboration franco-libanaise fructueuse
Mégarbané A
Les Cahiers de Myologie, 2010, 3, p.40-41
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
Braathen GJ, Sand JC, Russell MB
BMC Research Notes, 2010, 3, 1, 99, p. 1-5
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Arnaud E, Zenker J, de Preux Charles AS, et al.
Proceedings of the national Academy of sciences of the United States of America, 2009, 106, 41, p. 17528-17533
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
Moroni I, Morbin M, Milani M, et al.
Neuromuscular disorders : NMD, 2009, 19, 7, p. 476-480
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)
Hantke J, Chandler D, King R, et al.
European journal of human genetics, 2009, 17, 12, p. 1606-1614
Charcot-Marie-Tooth Disease
Szigeti K, Lupski JR
European journal of human genetics, 2009, 17, 6, p. 703-710
Autosomal dominant HMSN with proximal involvement. New Brazilian cases
Patroclo CB, Lino AMM, Marchiori PE, et al.
Arquivos de neuro-psiquiatria, 2009, 67, 3-B, p. 892-896
Experimental therapeutics in hereditary Neuropathies : the past, the present, and the future
Herrmann DN
Neurotherapeutics, 2008, 5, 4, p. 507-515
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression
Magot A, Latour P, Mussini JM, et al.
Muscle & Nerve, 2008, 38, 2, p. 1055-1059
Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A
Clinical neuropathology, 2008, 27, 1, p. 1-12
Charcot-Marie-Tooth Disease : a clinico-genetic confrontation
Barisic N, Claeys KG, Sirotkovic-Skerlev M, et al.
Annals of human genetics, 2008, 72, 3, p. 416-441
CMT4J : Charcot-Marie-Tooth disorder caused by mutations in FIG4
de Leeuw CN
Clinical genetics, 2008, 73, 4, p. 318-319
Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease : a case control study
Dziewas R, Waldmann N, Böntert M, et al.
Journal of neurology, neurosurgery and psychiatry, 2008, 79, 7, p. 829-831
Charcot-Marie-Tooth disease
Carter GT, Weiss MD, Han JJ, et al.
Current treatment options in neurology, 2008, 10, 2, p. 94-102
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Chow CY, Zhang Y, Dowling JJ, et al.
Nature, 2007, 448, 7149, p. 68-73
Mutations in Encoding the Rho GDP/GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth Type 4H
Delague V, Jacquier A, Hamadouche T, et al.
American journal of human genetics (The), 2007, 81, 1, p. 1-16
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
Claramunt R, Sevilla T, Lupo V, et al.
Clinical genetics, 2007, 71, 4, p. 343-349
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
Echaniz-Laguna A, Degos B, Bonnet C, et al.
Neuromuscular disorders : NMD, 2007, 17, 2, p. 163-168
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
Delague V, Jacquier A, Hamadouche T, et al.
American journal of human genetics (The), 2007, 81, 1, p. 1-16
Oral curcumin mitigates the clinical and neuropathologic phenotype of the trembler-j mouse : a potential therapy for inherited neuropathy
Khajavi M, Shiga K, Wiszniewski W, et al.
American journal of human genetics (The), 2007, 81, 3, p. 438-453
Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I
Kalkman JS, Schillings ML, Zwarts MJ, et al.
Acta neurologica Scandinavica, 2007, 115, 4, p. 265-270
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity
Maeda K, Kaji R, Yasuno K, et al.
Journal of human genetics, 2007, 52, 11, p. 907-914
Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry
Maeda K, Sugiura M, Kato H, et al.
Clinical neurology and neurosurgery, 2007, 109, 9, p. 830-832
The dominantly inherited motor and sensory neuropathies : clinical and molecular advances
Nicholson GA
Muscle & Nerve, 2006, 33, 5, p. 589-597
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy
Stanton M, Pannoni V, Lewis RA, et al.
Muscle & Nerve, 2006, 34, 4, p. 417-422
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
Dubourg O, Azzedine H, Verny C, et al.
Neuromolecular medicine, 2006, 8, 1-2, p. 75-85
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
Houlden H, Reilly MM
Neuromolecular medicine, 2006, 8, 1-2, p. 43-62
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
Pareyson D, Scaioli V, Laura M
Neuromolecular medicine, 2006, 8, 1-2, p. 3-22
Current concepts review : orthopaedic aspects of Charcot-Marie-Tooth disease
Guyton GP
Foot and ankle international, 2006, 27, 11, p. 1003-1010
Charcot-Marie-Tooth disease and related disorders
Shapiro BE, Hannibal MC, Chance PF
2006, p. 743-769
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
Azzedine H, Ravisé N, Verny C, et al.
Neurology, 2006, 67, 4, p. 602-606
Neuromuscular disease. Evidence and analysis in clinical neurology
Benatar M
Humana Press, 2006, 483 p.
Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I
Kalkman JS, Schillings ML, Zwarts MJ, et al.
European neurology, 2006, 56, 1, p. 24-30
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
Szigeti K, Nelis E, Lupski JR
Neuromolecular medicine, 2006, 8, 1-2, p. 243-253
Autosomal-recessive Charcot-Marie-Tooth diseases
Vallat JM, Tazir M, Magdelaine C, et al.
Journal of neuropathology and experimental neurology, 2005, 64, 5, p. 363-370
Atlas of Neuromuscular diseases : a practical guideline
Feldman EL, Grisold W, Russell JW, et al.
Springer-Verlag, 2005, 474 p.
Quality of life in patients with Charcot-Marie-Tooth disease
Vinci P, Serrao M, Millul A, et al.
Neurology, 2005, 65, 6, p. 922-924
Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I
Kalkman JS, Schillings ML, van der Werf SP, et al.
Journal of neurology, neurosurgery and psychiatry, 2005, 76, 10, p. 1406-1409
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
Gooding R, Colomer J, King R, et al.
Journal of medical genetics, 2005, 42, 12, e69, 7 p.
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
de Sandre-Giovannoli A, Delague V, Hamadouche T, et al.
Journal of medical genetics, 2005, 42, 3, p. 260-265
La maladie de Charcot-Marie Tooth (CMT) : du génotype au phénotype - Compte-rendu de la 8ème journées des maladies du système nerveux périphérique
Dubourg O
Congrès : 8ème journées des maladies du système nerveux périphérique (La maladie de Charcot-Marie Tooth (CMT) : du génotype au phénotype; 30-31 Janvier 2004; Paris)
Myoline, 2004, 72, p.2-3
Huitièmes journées des maladies du système nerveux périphérique ; La maladie de Charcot-Marie-Tooth : du phénotype au génotype
Dubourg O
Congrès : Huitièmes journées des maladies du système nerveux périphérique
Revue neurologique (Paris), 2004, 160, 12, p. 1221-1229
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene
Kochanski A, Kabzinska D, Drac H, et al.
European journal of paediatric neurology, 2004, 8, p. 221-224
Sensory manifestations in Charcot-Marie-Tooth disease
Gemignani F, Melli G, Alfieri S, et al.
Journal of the peripheral nervous system, 2004, 9, 1, p. 7-14
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
Ammar N, Nelis E, Merlini L, et al.
Neuromuscular disorders : NMD, 2003, 13, 9, p. 720-728
Neuropathies périphériques. Nouvelles approches diagnostiques et thérapeutiques
Créange A
Neurologies, 2003, 6, p. 186-189
Estimation of the inbreeding coefficient through use of genomic data
Leutenegger AL, Prum B, Génin E, et al.
American journal of human genetics (The), 2003, 73, 3, p. 516-523
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Senderek J, Bergmann C, Stendel C, et al.
American journal of human genetics (The), 2003, 73, 5, p. 1106-1119
Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II)
Videler AJ, Beelen C, Aufdemkampe G, et al.
Archives of physical medicine and rehabilitation, 2002, 83, p. 1274-1278
De la souris à l'homme : la périaxine responsable d'une forme autosomique récessive de la maladie de Charcot-Marie-Tooth
Guilbot A, Delague V
médecine/sciences, 2001, 17, 5, p.663-665
Disability and quality of life in Charcot-Marie-Tooth disease type 1
Pfeiffer G, Wicklein EM, Ratusinski T, et al.
Journal of neurology, neurosurgery and psychiatry, 2001, 70, p. 548-550
HMSN-Russe in two Spanish patients : distinctive features of the disease and current genetic findings
Colomer J, Iturriaga C, Kalaydjieva L, et al.
Acta myologica, 2001, XX, p. 202-209
Hereditary motor and sensory neuropathy Lom
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Acta myologica, 2001, XX, p. 192-201
La maladie de Charcot-Marie-Tooth de type démyélinisant : vers l'identification du gène responsable d'une forme autosomique récessive liée au chromosome 5
Guilbot A
Thèse, 2000, 120 p
Macro-EMG and muscle biopsy of paretic foot dorsiflexors in Charcot-Marie-Tooth disease
Ericson U, Borg J, Borg K
Muscle & Nerve, 2000, 23, 2, p. 217-222
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
Timmerman V, Ceuterick C, Nelis E, et al.
Brain, 1999, 122, 2, p. 281-290
Anaesthesia for caesarean section in a patient with Charcot-Marie-Tooth disease
Reah G, Lyons GR, Wilson RC
Anaesthesia, 1998, 53, 6, p. 580-588
Charcot-Marie-Tooth disease type 1 and 2 : analysis of sensory dysfunction with quantitative determination of somatosensory thresholds
Ericson UB, Borg K
Congrès : 2nd International congress of the World Muscle Society (16-18 Octobre 1997; Tunis)
Neuromuscular disorders : NMD, 1997, 7, 6-7, p. 455
Charcot-Marie-Tooth disease and related peripheral neuropathies
Timmerman V, Nelis E, Martin JJ, et al.
Journal of the peripheral nervous system, 1997, 2, 4, p. 370-387
Trois gènes et quatre neuropathies périphériques myéliniques : premières corrélations génotype/phénotype
Pham-Dinh D, Blanquet-Grossard F, Ressot C, et al.
médecine/sciences, 1997, 13, 10, p. 1113-1122
Anti-GD1a ganglioside antibodies in peripheral motor syndromes
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Annals of neurology, 1996, 39, p. 539-543
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