About: Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

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scientific article published on 01 July 1989

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1989 (uk) im Juli 1989 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1989 (ast) scientific article published on 01 July 1989 (en)
publication date	wds:Q69727594-957040F1-0B9A-4A78-81AA-084FA347E9C6
publication date	1989-07-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q69727594-15DC5216-8CD6-40CD-B610-51EF8E68395A wds:Q69727594-204DD3ED-21C5-4027-AC54-201B404327BA wds:Q69727594-382752B3-3E4C-42D8-B697-B685D9148CF3 wds:Q69727594-89AD0F95-C000-42A8-ADF6-03C57F303FFA wds:Q69727594-91B79A24-505D-4FC0-84E1-00CA26075D30 wds:Q69727594-D168D7A3-9856-4518-910D-6D3D044EF697
author name string	Fujita T Ikeda M Ohnishi A Furuya H Kuroiwa Y Murai Y
rdfs:label	Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (en) Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (nl)
skos:prefLabel	Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (en) Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (nl)
name	Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (en) Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (nl)
title	wds:Q69727594-0AB2D55C-AF1E-480A-A03E-5482477E7C15
title	Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding (en)
page(s)	wds:Q69727594-EDE350A7-4D62-48E5-950C-214F51FEF5A6
page(s)	568-575
instance of	wds:Q69727594-605DA182-85FD-4289-9516-39BD5FC87A69
instance of	scholarly article
PubMed ID	wds:Q69727594-EBD050D1-702B-441B-9F8C-071CDBFCE703
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/2779605
PubMed ID	2779605
published in	wds:Q69727594-71C6D2FD-4789-420E-9474-37014E3A6141
published in	Muscle and Nerve
issue	wds:Q69727594-7ACE81AF-E96E-476C-BAA1-D0244C3C1E82
volume	wds:Q69727594-78E6942C-2039-4572-82DB-E300C89EB83D
issue	7
volume	12
DOI	wds:Q69727594-302BDCA0-408A-4B74-ACED-F4159D1F61C9
DOI	http://dx.doi.org/10.1002/MUS.880120707
DOI	10.1002/MUS.880120707
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69727594
is cites work of	Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Fine structural evaluation of altered Schmidt-Lanterman incisures in human sural nerve biopsies Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein 4th Workshop of the European CMT-Consortium--62nd ENMC International Workshop: rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity Autosomal recessive hypermyelinating neuropathy Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding in two siblings Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome Neuropathology of Charcot-Marie-Tooth and related disorders Smaller axon and unaltered numbers of microtubules per axon in relation to number of myelin lamellae of myelinated fibers in the mutant quail deficient in neurofilaments Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy [Genetics of neuropathies]. Tomacula in MAG-deficient mice Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. Greater number of microtubules per axon of unmyelinated fibers of mutant quails deficient in neurofilaments: possible compensation for the absence of neurofilaments Smaller number of large myelinated fibers and focal myelin thickening in mutant quails deficient in neurofilaments Infantile neuropathy with unstable myelin: study of the P0 protein. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families [Molecular diagnosis of hereditary neuropathies such as Charcot-Marie-Tooth disease]
is cites work of	wds:Q28287602-1569E9B5-671D-4A04-B63F-746BA97DC10F wds:Q36534486-C5A2B814-AECD-486F-9C6D-DAEFF1230C70 wds:Q35451119-8B2E4BCB-85F5-4003-A196-E25973B02469 wds:Q57588473-95AC9187-DC6C-492F-902C-5A972217307A wds:Q72414634-04962FEB-D70D-4AAE-9F03-92285AE2F1F4 wds:Q28285809-9B496613-34E9-4EA9-A83B-1EAF049B24D9 wds:Q36507137-C25DBE0B-1F86-4F4B-AF84-003B1D89FFFD wds:Q44461854-384DDD2A-9E58-470F-A804-060F88F4A538 wds:Q24306773-AC822F07-EB61-4824-A9CA-219F61FE5F8A wds:Q34981298-F87D35FC-A1F4-4FDE-B009-991298011E02 wds:Q72028470-5AD20783-343D-4139-9C9D-90C13694572A wds:Q34142656-B66FC70F-7727-4DA8-9F1A-E6CE99425CD9 wds:Q34713816-34895F7B-3447-45DA-9E42-1B5B77EF930C wds:Q34690650-B46DD518-98B3-456D-81BB-324015B09371 wds:Q73226669-B1EFFE3B-284D-4EF8-BDE4-1C506E616638 wds:Q70829413-C2471136-4E92-4E8E-B04D-74AF587DC2AA wds:Q57728135-691BC1C7-10E3-4C8F-B2E9-3C55A7CB0AF4 wds:Q62675351-7FADB9E6-9EAA-4CFB-BE50-5EFD1DB032E0 wds:Q72540100-7AACE0CB-5B05-4A81-8779-BCEC9AC2EF81 wds:Q71876978-F70AFBF2-0887-488E-8F33-C94BA6047637 wds:Q77982677-1E9264D5-3F30-451F-BB63-2ED663B228C9 wds:Q39132433-50627214-C5B0-47CA-AF53-A990C435F26B wds:Q34341671-12C82B11-2DC0-4DEE-951A-3F7CE98BFEA0 wds:Q36709124-28AC3BE7-3D62-4AEC-9783-4FD216235CEA

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