review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Naoki Hattori | Q86907026 |
Masanori Nakagawa | Q116774410 | ||
Toyokazu Saito | Q116793924 | ||
Osamu Onodera | Q45304826 | ||
Haruki Koike | Q45422935 | ||
Gen Sobue | Q67219868 | ||
P2093 | author name string | Kenji 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 | |||
P433 | issue | Pt 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | patient | Q181600 |
P304 | page(s) | 134-151 | |
P577 | publication date | 2003-01-01 | |
P1433 | published in | Brain | Q897386 |
P1476 | title | 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 | |
P478 | volume | 126 |
Q37320433 | A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities |
Q48818567 | A delta-conotoxin from Conus ermineus venom inhibits inactivation in vertebrate neuronal Na+ channels but not in skeletal and cardiac muscles. |
Q85645833 | A family with IVIg-responsive Charcot-Marie-Tooth disease |
Q28254773 | A genetic screen identifies genes essential for development of myelinated axons in zebrafish |
Q35856535 | A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. |
Q35489565 | Age associated axonal features in HNPP with 17p11.2 deletion in Japan |
Q37608597 | Amount and intensity of daily living activities in Charcot-Marie-Tooth 1A patients |
Q57580702 | An anterior ankle-foot orthosis improves walking economy in Charcot–Marie–Tooth type 1A patients |
Q46019454 | Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. |
Q47212650 | Assessment of axonal loss in Charcot-Marie-Tooth neuropathies |
Q50698827 | Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. |
Q30496685 | Auditory nerve is affected in one of two different point mutations of the neurofilament light gene |
Q34554468 | Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy |
Q48156867 | Blink reflex role in algorithmic genetic testing of inherited polyneuropathies |
Q30457535 | CFTR-deficient pigs display peripheral nervous system defects at birth |
Q35206618 | Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families |
Q36166978 | Charcot-Marie-Tooth disease: New insights from skin biopsy |
Q73622269 | Charcot-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 |
Q37731961 | Charcot-marie-tooth disease: seventeen causative genes |
Q33646656 | Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease |
Q41402881 | Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. |
Q36507132 | Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease |
Q81258363 | Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia |
Q47100588 | Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India |
Q48343555 | Clinicopathological features of acute autonomic and sensory neuropathy |
Q36081783 | Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication |
Q50451484 | Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. |
Q30485962 | Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects |
Q36312893 | Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. |
Q90529275 | Demyelinating Neuropathy Due to Intravascular Large B-cell Lymphoma |
Q37383716 | Diagnosis of Charcot-Marie-Tooth disease. |
Q28111977 | Diagnosis, natural history, and management of Charcot–Marie–Tooth disease |
Q41104240 | Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients |
Q35193592 | Dominantly inherited peripheral neuropathies |
Q82094701 | Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci |
Q40313742 | Frequent laboratory abnormalities in CIDP patients |
Q38265030 | GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems |
Q80990188 | Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease |
Q52631187 | Genetic epidemiology of Charcot-Marie-Tooth disease. |
Q36276587 | Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene |
Q36368553 | How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? |
Q39212369 | Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review |
Q39002760 | Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease. |
Q36577237 | Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies |
Q57123028 | Membranous Nephropathy in a Patient with Charcot-Marie-Tooth Disease: Association of Myelin Mutations |
Q34807873 | Mitochondrial fission augments capsaicin-induced axonal degeneration |
Q36507186 | Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies |
Q36507155 | Molecular genetics of X-linked Charcot-Marie-Tooth disease |
Q42212358 | MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. |
Q53072665 | Muscle atrophy in chronic inflammatory demyelinating polyneuropathy: a computed tomography assessment. |
Q58183071 | Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice |
Q27643162 | NMR solution structures of delta-conotoxin EVIA from Conus ermineus that selectively acts on vertebrate neuronal Na+ channels |
Q36507137 | Neuropathology of Charcot-Marie-Tooth and related disorders |
Q40391386 | Neuroregenerative Effect of Oxandrolone: A Case Report |
Q48846881 | New findings in the ataxia of Charlevoix-Saguenay |
Q37715520 | PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies |
Q84307119 | Screening 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) |
Q33567193 | Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. |
Q37855764 | The aqueous layers within the myelin sheath modulate the membrane properties of simulated hereditary demyelinating neuropathies |
Q53809193 | The role of gap junctions in Charcot-Marie-Tooth disease. |
Q39023144 | Towards a functional pathology of hereditary neuropathies |
Q53620430 | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. |
Q33552824 | Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome |
Q36662116 | Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? |
Q53439745 | X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans. |
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