Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

scientific article (publication date: 2003)

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1093/BRAIN/AWG012
P3181OpenCitations bibliographic resource ID3376893
P698PubMed publication ID12477701
P5875ResearchGate publication ID10994189

P50authorNaoki HattoriQ86907026
Masanori NakagawaQ116774410
Toyokazu SaitoQ116793924
Osamu OnoderaQ45304826
Haruki KoikeQ45422935
Gen SobueQ67219868
P2093author name stringKenji Nakashima
Jun-ichi Kira
Ryuji Kaji
Nobuyuki Oka
Masayuki Baba
Hitoshi Yasuda
Masahiko Yamamoto
Kiyoshi Hayasaka
Hiroo Yoshikawa
Akio Ohnishi
Tsuyoshi Yoshihara
Study Group for Hereditary Neuropathy in Japan
P433issuePt 1
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
P304page(s)134-151
P577publication date2003-01-01
P1433published inBrainQ897386
P1476titleDemyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients
P478volume126

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cites work (P2860)
Q37320433A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities
Q48818567A delta-conotoxin from Conus ermineus venom inhibits inactivation in vertebrate neuronal Na+ channels but not in skeletal and cardiac muscles.
Q85645833A family with IVIg-responsive Charcot-Marie-Tooth disease
Q28254773A genetic screen identifies genes essential for development of myelinated axons in zebrafish
Q35856535A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Q35489565Age associated axonal features in HNPP with 17p11.2 deletion in Japan
Q37608597Amount and intensity of daily living activities in Charcot-Marie-Tooth 1A patients
Q57580702An anterior ankle-foot orthosis improves walking economy in Charcot–Marie–Tooth type 1A patients
Q46019454Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.
Q47212650Assessment of axonal loss in Charcot-Marie-Tooth neuropathies
Q50698827Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature.
Q30496685Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
Q34554468Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy
Q48156867Blink reflex role in algorithmic genetic testing of inherited polyneuropathies
Q30457535CFTR-deficient pigs display peripheral nervous system defects at birth
Q35206618Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families
Q36166978Charcot-Marie-Tooth disease: New insights from skin biopsy
Q73622269Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
Q37731961Charcot-marie-tooth disease: seventeen causative genes
Q33646656Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease
Q41402881Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort.
Q36507132Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
Q81258363Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia
Q47100588Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India
Q48343555Clinicopathological features of acute autonomic and sensory neuropathy
Q36081783Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication
Q50451484Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.
Q30485962Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects
Q36312893Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.
Q90529275Demyelinating Neuropathy Due to Intravascular Large B-cell Lymphoma
Q37383716Diagnosis of Charcot-Marie-Tooth disease.
Q28111977Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
Q41104240Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
Q35193592Dominantly inherited peripheral neuropathies
Q82094701Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci
Q40313742Frequent laboratory abnormalities in CIDP patients
Q38265030GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems
Q80990188Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
Q52631187Genetic epidemiology of Charcot-Marie-Tooth disease.
Q36276587Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
Q36368553How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Q39212369Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review
Q39002760Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.
Q36577237Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies
Q57123028Membranous Nephropathy in a Patient with Charcot-Marie-Tooth Disease: Association of Myelin Mutations
Q34807873Mitochondrial fission augments capsaicin-induced axonal degeneration
Q36507186Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
Q36507155Molecular genetics of X-linked Charcot-Marie-Tooth disease
Q42212358MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
Q53072665Muscle atrophy in chronic inflammatory demyelinating polyneuropathy: a computed tomography assessment.
Q58183071Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice
Q27643162NMR solution structures of delta-conotoxin EVIA from Conus ermineus that selectively acts on vertebrate neuronal Na+ channels
Q36507137Neuropathology of Charcot-Marie-Tooth and related disorders
Q40391386Neuroregenerative Effect of Oxandrolone: A Case Report
Q48846881New findings in the ataxia of Charlevoix-Saguenay
Q37715520PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
Q84307119Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)
Q33567193Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.
Q37855764The aqueous layers within the myelin sheath modulate the membrane properties of simulated hereditary demyelinating neuropathies
Q53809193The role of gap junctions in Charcot-Marie-Tooth disease.
Q39023144Towards a functional pathology of hereditary neuropathies
Q53620430Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Q33552824Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
Q36662116Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Q53439745X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

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