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Charcot-Marie-Tooth-Disease
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Charcot-Marie-Tooth-Disease
Adaptation by alternative rna splicing of slow troponin t isoforms in type 1 but not type 2 charcot-marie-tooth disease
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Nefl
pro22arg mutation in charcot-marie-tooth disease type 1
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Charcot-marie-tooth type x: unusual phenotype of a novel cx32 mutation
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Vincristine: peripheral nerve disorders in a patient with charcot-marie-tooth disease type 2: case report
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Vincristine: peripheral nerve disorders in a patient with charcot-marie-tooth disease type 2: case report.
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Compound heterozygous deletions of pmp22 causing severe charcot-marie-tooth disease of the dejerine-sottas disease phenotype
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Charcot-marie-tooth disease
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Mutation of fig4 causes a rapidly progressive, asymmetric neuronal degeneration
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Teen athlete with debilitating deformities back on feet after complex surgery at cedars-sinai medical center
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V osteotomy and ilizarov technique for residual idiopathic or neurogenic clubfeet.
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Message of hope.
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Ultrasound-guided peripheral regional blockade in patients with charcot-marie-tooth disease: a review of three cases.
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Ultrasound-guided peripheral regional blockade in patients with charcot-marie-tooth disease: a review of three cases: [bloc regional peripherique echoguide chez les patients souffrant de la maladie de charcot-marie-tooth: compte-rendu de trois cas].
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Bilateral trigeminal neuralgia and charcot-marie-tooth disease: diagnosis and successful microsurgical treatment of bilateral neurovascular compression
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Bilateral trigeminal neuralgia and charcot-marie-tooth disease: diagnosis and successful microsurgical treatment of bilateral neurovascular compression.
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Oxford brookes study need more participants with muscular dystrophy, uk
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Immune effects of mesenchymal stem cells: implications for charcot-marie-tooth disease.
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Funding for charcot-marie-tooth disease research
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Charcot-marie-tooth disease research funding
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Severe neurotoxicities in a case of charcot-marie-tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia.
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Charcot-marie-tooth and pain: correlations with neurophysiological, clinical, and disability findings
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Late-onset hmsn 2: further evidence of genetic heterogeneity
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Late-onset hereditary axonal neuropathies
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Distal hereditary motor neuropathy in korean patients with a small heat shock protein 27 mutation.
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Founder effect and estimation of the age of the c.892c>t (p.arg298cys) mutation in lmna associated to charcot-marie-tooth subtype cmt2b1 in families from north western africa
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Adaptation by alternative rna splicing of slow troponin t isoforms in type 1 but not type 2 charcot-marie-tooth disease.
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Magnetic resonance imaging findings of leg musculature in charcot-marie-tooth disease type 2 due to dynamin 2 mutation
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[short reports] increased prevalence of obstructive sleep apnoea in patients with charcot-marie-tooth disease: a case control study
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Founder effect and estimation of the age of the c.892c>t (p.arg298cys) mutation in lmna associated to charcot-marie-tooth subtype cmt2b1 in families from north western africa
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Sequential actions of myotubularin lipid phosphatases regulate endosomal pi(3)p and growth factor receptor trafficking.
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[letters to the editor] electroconvulsive therapy in a patient with concomitant depression and charcot-marie-tooth disease
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Electroconvulsive therapy in a patient with concomitant depression and charcot-marie-tooth disease.
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Pressure characteristics in painful pes cavus feet resulting from charcot-marie-tooth disease.
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Increased severity over generations of charcot-marie-tooth disease type 1a
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Cerebral involvement in axonal charcot-marie-tooth neuropathy caused by mitofusin2 mutations
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Charcot-marie-tooth disease type 1b: marked phenotypic variation of the ser78leu mutation in five italian families
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Gap junction beta 1 (
gjb1
) gene mutations in italian patients with x-linked charcot-marie-tooth disease
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Estimating contraction level using root mean square amplitude in control subjects and patients with neuromuscular disorders.
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Charcot-marie-tooth disease
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Central nervous system signs in x-linked charcot-marie-tooth disease after hyperventilation.
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[neuroscience] loss of the inactive myotubularin-related phosphatase mtmr13 leads to a charcot-marie-tooth 4b2-like peripheral neuropathy in mice
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Comparison of two pcr-based molecular methods in the diagnosis of cmt 1a and hnpp diseases in chinese.
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Correlation between clinical/neurophysiological findings and quality of life in charcot-marie-tooth type 1a
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Benefits of interval-training on fatigue and functional capacities in charcot-marie-tooth disease
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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
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Centocor removes lawsuit alleging remicade triggered charcot-marie-tooth disorder
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Capillary electrophoresis for the detection of pmp22 gene duplication: study in mexican patients
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Poor compliance with ankle-foot-orthoses in charcot-marie-tooth disease.
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Mitochondrial dynamics: to be in good shape to survive.
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Human oligodendrocytes express cx31.3: function and interactions with cx32 mutants.
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Sensory evaluation of the hands in patients with charcot-marie-tooth disease using semmes-weinstein monofilaments.
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A highly specific microarray method for point mutation detection.
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Volume 79, number 5: a chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination
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Cloning, expression and characterization of the murine orthologue of sbf2, the gene mutated in charcot-marie-tooth disease type 4b2.
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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination
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A chromosomal rearrangement hotspot can be identified from population genetic variation and is ...
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Effects of exercise and creatine on myosin heavy chain isoform composition in patients with charcot-marie-tooth disease
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Effects of exercise and creatine on myosin heavy chain isoform composition in patients with ...
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[papers] charcot-marie-tooth disease type 1a duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study
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[papers] charcot-marie-tooth disease type 1a duplication with severe paresis of the proximal ...
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Night splinting does not increase ankle range of motion in people with charcot-marie-tooth disease: a randomised, cross-over trial.
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Night splinting does not increase ankle range of motion in people with charcot-marie-tooth ...
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Comparison of cmt1a and cmt2: similarities and differences
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Comparison of cmt1a and cmt2: similarities and differences
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Is a novel i214m substitution in the nefl gene a cause of charcot-marie-tooth disease? functional analysis using cell culture models
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Is a novel i214m substitution in the nefl gene a cause of charcot-marie-tooth disease? ...
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Spine deformities in charcot-marie-tooth 4c caused by sh3tc2 gene mutations
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Evidence for involvement of tre-2 (usp6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations
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Evidence for involvement of tre-2 (usp6) oncogene, low-copy repeat and acrocentric ...
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Mutation analysis of the pmp22, mpz, egr2, litaf, and gjb1 genes in korean patients with charcot-marie-tooth neuropathy type 1
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Mutation analysis of the pmp22, mpz, egr2, litaf, and gjb1 genes in korean patients with ...
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How to assess the pathogenicity of mutations in charcot-marie-tooth disease and other diseases?
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How to assess the pathogenicity of mutations in charcot-marie-tooth disease and other diseases?
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Critical dependence of neurons on mitochondrial dynamics.
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Diagnosis of charcot-marie-tooth disease simplified by research
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Diagnosis of charcot-marie-tooth disease simplified by research
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Early onset severe and late-onset mild charcot-marie-tooth disease with mitofusin 2 (mfn2) mutations
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Mfn2 mutation distribution and genotype/phenotype correlation in charcot-marie-tooth type 2
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Sponsorship Opportunity
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Mfn2 mutation distribution and genotype/phenotype correlation in charcot-marie-tooth type 2
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Early onset severe and late-onset mild charcot-marie-tooth disease with mitofusin 2 (mfn2) mutations
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See your message here
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Sponsorship Opportunity
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[short reports] myelin protein zero mutation his39pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis
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[charcot-marie-tooth disorders: past, today and tomorrow.]
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[short reports] myelin protein zero mutation his39pro: hereditary motor and sensory neuropathy ...
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[charcot-marie-tooth disorders: past, today and tomorrow.]
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Microarray maph: accurate array-based detection of relative copy number in genomic dna
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Microarray maph: accurate array-based detection of relative copy number in genomic dna
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Pes cavus pathogenesis in charcot-marie-tooth disease type 1a
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Pes cavus pathogenesis in charcot-marie-tooth disease type 1a
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Simple mutation analysis in dominant demyelinating charcot-marie-tooth disease: three novel mutations
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Simple mutation analysis in dominant demyelinating charcot-marie-tooth disease: three novel ...
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The g526r glycyl-trna synthetase gene mutation in distal hereditary motor neuropathy type v
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The g526r glycyl-trna synthetase gene mutation in distal hereditary motor neuropathy type v
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Charcot-marie-tooth neuropathy type 2a:
novel mutations in the mitofusin 2 gene (mfn2)
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Charcot-marie-tooth neuropathy type 2a:
novel mutations in the mitofusin 2 gene (mfn2)
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Pregnancy in charcot-marie-tooth disease
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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
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Pregnancy in charcot-marie-tooth disease
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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
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Evaluation and treatment of hip dysplasia in charcot-marie-tooth disease.
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Evaluation and treatment of hip dysplasia in charcot-marie-tooth disease.
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New mutation of gap junction protein β1 (gjb1) gene in x-linked hereditary motor and sensory neuropathy
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New mutation of gap junction protein β1 (gjb1) gene in x-linked hereditary motor and sensory ...
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Electrodiagnostic studies in a murine model of demyelinating charcot-marie-tooth disease.
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Electrodiagnostic studies in a murine model of demyelinating charcot-marie-tooth disease.
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Molecular genetics studies in polish charcot-marie-tooth families.
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Molecular genetics studies in polish charcot-marie-tooth families.
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Mutations in the neurofilament light chain gene (nefl)--a study of a possible pathogenous effect.
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Mutations in the neurofilament light chain gene (nefl)--a study of a possible pathogenous effect.
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Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research.
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[silver syndrome - case report.]
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Neuropathy progression in charcot-marie-tooth disease type 1a
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A novel
gdap1
q218e mutation in autosomal dominant charcot-marie-tooth disease
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Ndrg1, a growth and cancer related gene: regulation of gene expression and function in normal and disease states
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Mpz mutation g123s characterization: evidence for a complex pathogenesis in cmt disease
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Charcot-marie-tooth disease: a clinico-genetic confrontation
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Unusual presentation of hereditary neuropathy with liability to pressure palsies
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New motor system impairment diagnosing tool developed
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Identification of deletion and duplication genotypes of the pmp22 gene using pcr-rflp, competitive multiplex pcr, and multiplex ligation-dependent probe amplification: a comparison
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Differential expression patterns of ndrg family proteins in the central nervous system
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Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice
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California girl named 2008 mda national goodwill ambassador
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