Clinical features and molecular genetics of hereditary peripheral neuropathies

[1]  C. Stewart,et al.  Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. , 2002, American journal of human genetics.

[2]  J. Hertz,et al.  [Hereditary neuropathy with liability to pressure palsies]. , 2002, Ugeskrift for laeger.

[3]  C. van Broeckhoven,et al.  Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous , 2001, Journal of Neurology.

[4]  S. Robertson,et al.  Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. , 2001, American journal of human genetics.

[5]  A. Malandrini,et al.  Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. , 2001, American journal of human genetics.

[6]  T. Wienker,et al.  Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 , 2001, Nature Genetics.

[7]  K. Ørstavik,et al.  Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies , 2001, Muscle & nerve.

[8]  O. Evgrafov,et al.  A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 , 2001, European Journal of Human Genetics.

[9]  N. Hirokawa,et al.  Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ , 2001, Cell.

[10]  J. Perea,et al.  Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. , 2001, Human molecular genetics.

[11]  N. Rahman,et al.  Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. , 2001, American journal of human genetics.

[12]  D. Sherman,et al.  Specific Disruption of a Schwann Cell Dystrophin-Related Protein Complex in a Demyelinating Neuropathy , 2001, Neuron.

[13]  N. Wood,et al.  A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V , 2001, Annals of neurology.

[14]  A. Windebank,et al.  Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy , 2001, Neurology.

[15]  S. Brahmbhatt,et al.  Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I , 2001, Nature Genetics.

[16]  Robert H. Brown,et al.  SPTLC1 is mutated in hereditary sensory neuropathy, type 1 , 2001, Nature Genetics.

[17]  B. Rubin,et al.  Familial dysautonomia is caused by mutations of the IKAP gene. , 2001, American journal of human genetics.

[18]  C Maayan,et al.  Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. , 2001, American journal of human genetics.

[19]  A. Mégarbané,et al.  A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. , 2001, Human molecular genetics.

[20]  C. van Broeckhoven,et al.  Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E , 2001, Annals of neurology.

[21]  F. Endo,et al.  Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. , 2001, Human molecular genetics.

[22]  P. Stankiewicz,et al.  Periaxin mutations cause recessive Dejerine-Sottas neuropathy. , 2001, American journal of human genetics.

[23]  C. Bolton,et al.  Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis , 2001, Acta Neuropathologica.

[24]  M. Hamida,et al.  Linkage of a new locus for autosomal recessive axonal form of Charcot–Marie–Tooth disease to chromosome 8q21.3 , 2001, Neuromuscular Disorders.

[25]  A. Quattrone,et al.  Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy , 2001, Neurology.

[26]  J. Genschel,et al.  Mutations in the LMNA gene encoding lamin A/C , 2000, Human mutation.

[27]  N. Zubin,et al.  Activate your online subscription , 2000, Neurology.

[28]  M. Koenig,et al.  The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy , 2000, Nature Genetics.

[29]  Access www.neurology.org now for full-text articles , 2000, Neurology.

[30]  R. Gouider,et al.  [Hereditary neuropathy with liability to pressure palsies]. , 2000, Revue neurologique.

[31]  A. Maelicke,et al.  Production of Ceramides Causes Apoptosis during Early Neural Differentiation in Vitro * , 2000, The Journal of Biological Chemistry.

[32]  A. Klippel,et al.  The IκB Kinase (IKK) Complex Is Tripartite and Contains IKKγ but Not IKAP as a Regular Component* , 2000, The Journal of Biological Chemistry.

[33]  L. Kalaydjieva,et al.  A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. , 2000, American journal of human genetics.

[34]  Steve D. M. Brown,et al.  Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy , 2000 .

[35]  O. Evgrafov,et al.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. , 2000, American journal of human genetics.

[36]  E. Chouery,et al.  Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. , 2000, American journal of human genetics.

[37]  P K Thomas,et al.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. , 2000, American journal of human genetics.

[38]  Aldo Quattrone,et al.  Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 , 2000, Nature Genetics.

[39]  Austin G Smith,et al.  Peripheral Demyelination and Neuropathic Pain Behavior in Periaxin-Deficient Mice , 2000, Neuron.

[40]  S. Botti,et al.  Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation , 2000, Neurology.

[41]  F. Gabreëls,et al.  The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? , 2000, Brain : a journal of neurology.

[42]  J. Lupski,et al.  Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease , 2000, Muscle & nerve.

[43]  S. Scherer,et al.  Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. , 2000, Brain : a journal of neurology.

[44]  U. Aebi,et al.  Intermediate filaments and their associates: multi-talented structural elements specifying cytoarchitecture and cytodynamics. , 2000, Current opinion in cell biology.

[45]  H. Müller Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses , 2000, Glia.

[46]  Y. So,et al.  Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies , 2000, Neurology.

[47]  M. Pierotti,et al.  The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor , 2000, Journal of cellular physiology.

[48]  M. Pericak-Vance,et al.  Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. , 1999, Genomics.

[49]  C. Broeckhoven,et al.  Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 , 1999, European Journal of Human Genetics.

[50]  C. van Broeckhoven,et al.  A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes. , 1999, Genomics.

[51]  T. Wienker,et al.  Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21. , 1999, American journal of human genetics.

[52]  C. Lacroix,et al.  The Roussy‐Lévy family: From the original description to the gene , 1999, Annals of neurology.

[53]  J. Terwilliger,et al.  Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1 , 1999, Neuromuscular Disorders.

[54]  N. Lévy,et al.  Demyelinating X‐linked Charcot–Marie–Tooth disease: Unusual electrophysiological findings , 1999, Muscle & nerve.

[55]  A. Brice,et al.  A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. , 1999, American journal of human genetics.

[56]  C. van Broeckhoven,et al.  Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field , 1999, Neurogenetics.

[57]  A. Simonati,et al.  Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 , 1999, Neurology.

[58]  J. Lupski,et al.  Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. , 1999, Human molecular genetics.

[59]  K. Fischbeck,et al.  Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. , 1999, Journal of neuropathology and experimental neurology.

[60]  L. Kalaydjieva,et al.  Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter , 1999, European Journal of Human Genetics.

[61]  J. Lupski,et al.  Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype , 1999, Neurology.

[62]  P. Latour,et al.  Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene , 1999, Journal of neurology, neurosurgery, and psychiatry.

[63]  H. Kikyo,et al.  Creutzfeldt-Jakob-like syndrome induced by lithium, levomepromazine, and phenobarbitone , 1999, Journal of neurology, neurosurgery, and psychiatry.

[64]  H. Müller,et al.  Peripheral Myelin Protein 22 and Protein Zero: a Novel Association in Peripheral Nervous System Myelin , 1999, The Journal of Neuroscience.

[65]  T. Uchida,et al.  Isolation of 10 Differentially Expressed cDNAs in Differentiated Neuro2a Cells Induced Through Controlled Expression of the GD3 Synthase Gene , 1999, Journal of Neurochemistry.

[66]  Y. Parman,et al.  Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine‐Sottas disease , 1999, Annals of neurology.

[67]  E. Shooter,et al.  Transport of Trembler-J Mutant Peripheral Myelin Protein 22 Is Blocked in the Intermediate Compartment and Affects the Transport of the Wild-Type Protein by Direct Interaction , 1999, The Journal of Neuroscience.

[68]  J. Lupski,et al.  Congenital hypomyelinating neuropathy: two patients with long-term follow-up. , 1999, Pediatric neurology.

[69]  P. Vermersch,et al.  Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q) , 1999, Neurology.

[70]  C. van Broeckhoven,et al.  The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. , 1999, Brain : a journal of neurology.

[71]  J. Dichgans,et al.  Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene , 1999, Journal of neurology, neurosurgery, and psychiatry.

[72]  C. Mahaffey,et al.  Identification of the Mouse Neuromuscular Degeneration Gene and Mapping of a Second Site Suppressor Allele , 1998, Neuron.

[73]  M. Dalakas,et al.  Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15 , 1998, Journal of the Neurological Sciences.

[74]  A. Corbett,et al.  Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families , 1998, Neurology.

[75]  C. van Broeckhoven,et al.  An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins. , 1998, Genetic analysis : biomolecular engineering.

[76]  R. Balice-Gordon,et al.  Functional Gap Junctions in the Schwann Cell Myelin Sheath , 1998, The Journal of cell biology.

[77]  C. Broeckhoven,et al.  Charcot-Marie-Tooth disease: an intermediate form , 1998, Neuromuscular Disorders.

[78]  M. Filbin,et al.  Myelin Po protein mutated at Cys21 has a dominant‐negative effect on adhesion of wild type Po , 1998, Journal of neuroscience research.

[79]  D. Pham‐Dinh,et al.  Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties , 1998, The Journal of Neuroscience.

[80]  F. Muntoni,et al.  Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene , 1998, Neurology.

[81]  J. Lupski,et al.  Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies , 1998, Nature Genetics.

[82]  M. Cleary,et al.  Association of SET domain and myotubularin-related proteins modulates growth control , 1998, Nature Medicine.

[83]  L. Kalaydjieva,et al.  HMSNL in a 13-year-old Bulgarian girl , 1998, Neuromuscular Disorders.

[84]  Y. Agid,et al.  X-linked Charcot-Marie-Tooth disease with connexin 32 mutations , 1998, Neurology.

[85]  A. Hristova,et al.  Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. , 1998, Brain : a journal of neurology.

[86]  E. Ringelstein,et al.  PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A , 1998, Neurology.

[87]  D. Figarella-Branger,et al.  Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. , 1998, Human molecular genetics.

[88]  F. Fazekas,et al.  Roussy–Lévy syndrome is a phenotypic variant of Charcot–Marie–Tooth syndrome IA associated with a duplication on chromosome 17p11.2 , 1998, Journal of the Neurological Sciences.

[89]  J. Gabriel,et al.  Gene dosage effects in hereditary peripheral neuropathy , 1997, Neurology.

[90]  S. Tsuji,et al.  Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A , 1997, Neurology.

[91]  G. Lemke,et al.  Multiple Regulatory Elements Control Transcription of the Peripheral Myelin Protein Zero Gene* , 1997, The Journal of Biological Chemistry.

[92]  J. Julien,et al.  Delayed Maturation of Regenerating Myelinated Axons in Mice Lacking Neurofilaments , 1997, Experimental Neurology.

[93]  M. Bennett,et al.  Changes in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease , 1997, Neuron.

[94]  M. Pericak-Vance,et al.  Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity , 1997, Neurogenetics.

[95]  M. Koenig,et al.  Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1 , 1997, Neurogenetics.

[96]  K. Willecke,et al.  Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32 , 1997, The Journal of Neuroscience.

[97]  U. Suter,et al.  Heterozygous Peripheral Myelin Protein 22-Deficient Mice Are Affected by a Progressive Demyelinating Tomaculous Neuropathy , 1997, The Journal of Neuroscience.

[98]  C. van Broeckhoven,et al.  Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. , 1997, Journal of neurology, neurosurgery, and psychiatry.

[99]  K. Arimura,et al.  A new type of hereditary motor and sensory neuropathy linked to chromosome 3 , 1997, Annals of neurology.

[100]  C. Broeckhoven,et al.  Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24–q25 , 1997, Human Genetics.

[101]  G. Assmann,et al.  A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies , 1997, Neurology.

[102]  A. Windebank,et al.  Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies , 1997, Neurology.

[103]  H. Pahl,et al.  The ER-overload response: activation of NF-κB , 1997 .

[104]  U. Suter,et al.  Aberrant Protein Trafficking inTremblerSuggests a Disease Mechanism for Hereditary Human Peripheral Neuropathies , 1997, Molecular and Cellular Neuroscience.

[105]  V. Ionasescu,et al.  Dejerine‐Sottas neuropathy in mother and son with same point mutation of PMP22 gene , 1997, Muscle & nerve.

[106]  A. Brice,et al.  Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A Disease , 1997, Annals of neurology.

[107]  C. van Broeckhoven,et al.  Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. , 1996, Journal of neurology, neurosurgery, and psychiatry.

[108]  A. Hristova,et al.  Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24 , 1996, Nature Genetics.

[109]  A. Brice,et al.  Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33 , 1996 .

[110]  K. Willecke,et al.  Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[111]  J. Lupski,et al.  Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination , 1996, Neuron.

[112]  V. Sheffield,et al.  Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). , 1996, Human molecular genetics.

[113]  E. Mariman,et al.  Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease , 1996, Neurology.

[114]  W. Hendrickson,et al.  Crystal Structure of the Extracellular Domain from P0, the Major Structural Protein of Peripheral Nerve Myelin , 1996, Neuron.

[115]  H. Tonoki,et al.  Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis , 1996, Nature Genetics.

[116]  R. King,et al.  The pathology of Charcot‐Marie‐Tooth disease and related disorders , 1996, Neuropathology and applied neurobiology.

[117]  A. Corbett,et al.  Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. , 1996, Journal of neurology, neurosurgery, and psychiatry.

[118]  C. van Broeckhoven,et al.  Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. , 1996, Human molecular genetics.

[119]  M. Devoto,et al.  Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. , 1996, Human molecular genetics.

[120]  J. Vance,et al.  Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. , 1996, American journal of human genetics.

[121]  S. Klauck,et al.  A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast , 1996, Nature Genetics.

[122]  A. Brice,et al.  Ultrastructural PMP22 expression in inherited demyelinating neuropathies , 1996, Annals of neurology.

[123]  K. Hayasaka,et al.  A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). , 1996, Biochemical and biophysical research communications.

[124]  C. Broeckhoven,et al.  Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. , 1996, Neurology.

[125]  K. Nave,et al.  A Transgenic Rat Model of Charcot-Marie-Tooth Disease , 1996, Neuron.

[126]  A. Cherryson,et al.  The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3 , 1996, Nature Genetics.

[127]  D. Figarella-Branger,et al.  Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. , 1996, Human molecular genetics.

[128]  R. Bruzzone,et al.  Connections with connexins: the molecular basis of direct intercellular signaling. , 1996, European journal of biochemistry.

[129]  T. Rebbeck,et al.  Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q , 1996, Neurology.

[130]  V. Ionasescu,et al.  A Dejerine‐Sottas neuropathy family with a gene mapped on chromosome 8 , 1996, Muscle & nerve.

[131]  P. Dyck,et al.  Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2 , 1996, Neurology.

[132]  M. Schachner,et al.  Protein zero (P0)–deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies , 1995, Nature Genetics.

[133]  A. Aguzzi,et al.  Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice , 1995, Nature Genetics.

[134]  J. Ivanovich,et al.  Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. , 1995, American Journal of Human Genetics.

[135]  J. Weber,et al.  Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. , 1995, Human molecular genetics.

[136]  E. Bellone,et al.  Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion , 1995, Journal of the Neurological Sciences.

[137]  K. Fischbeck,et al.  Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease , 1994, Neuron.

[138]  S. Schneider-Maunoury,et al.  Krox-20 controls myelination in the peripheral nervous system , 1994, Nature.

[139]  K. Fischbeck,et al.  A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. , 1994, Genomics.

[140]  C. van Broeckhoven,et al.  Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsies , 1994, Journal of neuroscience research.

[141]  M. Barbacid,et al.  Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene , 1994, Nature.

[142]  F. Baas,et al.  A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies , 1994, Nature Genetics.

[143]  K. Fischbeck,et al.  Connexin mutations in X-linked Charcot-Marie-Tooth disease. , 1993, Science.

[144]  S. Schneider-Maunoury,et al.  Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain , 1993, Cell.

[145]  F. Baas,et al.  Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. , 1993, Human molecular genetics.

[146]  C. van Broeckhoven,et al.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. , 1993, Human molecular genetics.

[147]  J. Lupski,et al.  Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene , 1993, Nature Genetics.

[148]  C. R. Fourtner,et al.  Identification of a proline residue as a transduction element involved in voltage gating of gap junctions , 1993, Nature.

[149]  M. Pericak-Vance,et al.  Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. , 1993, Human molecular genetics.

[150]  N. Shimizu,et al.  Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene , 1993, Nature Genetics.

[151]  K. Hayasaka,et al.  Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. , 1993, Human molecular genetics.

[152]  Y. Fukushima,et al.  Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. , 1993, Biochemical and biophysical research communications.

[153]  E. Mariman,et al.  Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 , 1993, Human Genetics.

[154]  M. Pericak-Vance,et al.  Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. , 1993, Genomics.

[155]  J. Lupski,et al.  Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. , 1993, The New England journal of medicine.

[156]  J. Haines,et al.  Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis , 1993, Nature Genetics.

[157]  E. Shooter,et al.  Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. , 1993, The Journal of biological chemistry.

[158]  C. Disteche,et al.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies , 1993, Cell.

[159]  A. C. Chinault,et al.  Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit , 1992, Nature Genetics.

[160]  F. Baas,et al.  Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A , 1992, Nature Genetics.

[161]  M. Schachner,et al.  Mouse P 0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons , 1992, Cell.

[162]  T. Bird,et al.  Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees , 1992, Neurology.

[163]  T. Bird,et al.  Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A , 1992, Nature Genetics.

[164]  P. De Jonghe,et al.  The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication , 1992, Nature Genetics.

[165]  E. Shooter,et al.  A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[166]  D. Ledbetter,et al.  Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A , 1992, Nature Genetics.

[167]  E. Shooter,et al.  Trembler mouse carries a point mutation in a myelin gene , 1992, Nature.

[168]  S. Malcolm,et al.  Charcot-Marie-Tooth disease type 1. , 1992, Journal of medical genetics.

[169]  F. Baas,et al.  Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) , 1991, Neuromuscular Disorders.

[170]  Aravinda Chakravarti,et al.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.

[171]  J. Haines,et al.  Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. , 1991, American journal of human genetics.

[172]  R. Werner,et al.  Gating properties of connexin32 cell—cell channels and their mutants expressed in Xenopusoocytes , 1991, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[173]  M. E. Ruaro,et al.  A growth arrest-specific (gas) gene codes for a membrane protein , 1990, Molecular and cellular biology.

[174]  B. Trapp,et al.  Role of myelin Po protein as a homophilic adhesion molecule , 1990, Nature.

[175]  P. Brophy,et al.  Protein zero of peripheral nerve myelin: Biosynthesis, membrane insertion, and evidence for homotypic interaction , 1990, Neuron.

[176]  R. Ouvrier Giant axonal neuropathy a review , 1989, Brain and Development.

[177]  M. Pericak-Vance,et al.  Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17 , 1989, Experimental Neurology.

[178]  J. Rowley,et al.  Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[179]  G. Lemke Unwrapping the genes of myelin , 1988, Neuron.

[180]  G. Lemke,et al.  Isolation and analysis of the gene encoding peripheral myelin protein zero , 1988, Neuron.

[181]  M. Pericak-Vance,et al.  X‐linked neuropathy: Gene localization with DNA probes , 1986, Annals of neurology.

[182]  D. Paul Molecular cloning of cDNA for rat liver gap junction protein , 1986, The Journal of cell biology.

[183]  E. Airaksinen,et al.  Hereditary recurrent brachial plexus neuropathy with dysmorphic features , 1985, Acta neurologica Scandinavica.

[184]  L. Graziani,et al.  X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. , 1985, American journal of medical genetics.

[185]  W. Arts,et al.  Hereditary neuralgic amyotrophy Clinical, genetic, electrophysiological and histopathological studies , 1983, Journal of the Neurological Sciences.

[186]  J. Ott,et al.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. , 1982, American journal of human genetics.

[187]  J. Stevens,et al.  Lumbosacral plexus neuropathy , 1981, Neurology.

[188]  P K Thomas,et al.  The clinical features of hereditary motor and sensory neuropathy types I and II. , 1980, Brain : a journal of neurology.

[189]  H. Kretzschmar,et al.  Giant axonal neuropathy , 1972, Acta Neuropathologica.

[190]  P. Dyck,et al.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. , 1968, Archives of neurology.

[191]  P. Dyck Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy. , 1966, Mayo Clinic proceedings.

[192]  F. Andermann,et al.  Heredofamilial neuritis with brachial predilection , 1961, Neurology.

[193]  R. Day,et al.  Central autonomic dysfunction with defective lacrimation; report of five cases. , 1949, Pediatrics.

[194]  A. Rossi,et al.  Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form , 2004, Journal of Neurology.

[195]  T. Wienker,et al.  X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq , 2004, Human Genetics.

[196]  C. Broeckhoven,et al.  Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) , 2004, Human Genetics.

[197]  T. Bird,et al.  Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. , 2002, American journal of human genetics.

[198]  J. Gilbert,et al.  Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 , 2002, Nature Genetics.

[199]  N. Hirokawa,et al.  Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. , 2001, Cell.

[200]  R. Barrantes,et al.  A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. , 2001, American journal of human genetics.

[201]  J. Gilbert,et al.  The gene encoding ganglioside- induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease , 2001 .

[202]  K. Kyriacou,et al.  A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. , 2000, Annals of neurology.

[203]  F. Fazekas,et al.  [Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation]. , 1999, Der Nervenarzt.

[204]  K. Fischbeck,et al.  The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. , 1999, Novartis Foundation symposium.

[205]  C. van Broeckhoven,et al.  Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies , 1999, Human mutation.

[206]  J. Perea,et al.  Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease. , 1999, Annals of the New York Academy of Sciences.

[207]  小林 祥泰,et al.  錐体路徴候,視神経乳頭萎縮,精神発達遅滞を合併したhereditary motor and sensory neuropathyの1例 , 1998 .

[208]  K. Fischbeck,et al.  Connexin32 and X-linked Charcot-Marie-Tooth disease. , 1997, Neurobiology of disease.

[209]  X. Estivill,et al.  Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study , 1996, European journal of human genetics : EJHG.

[210]  N. Tachi,et al.  De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III) , 1993, Nature Genetics.

[211]  F Buchthal,et al.  Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. , 1972, Brain : a journal of neurology.