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294 results for hereditary+motor+and+sensory+neuropathies

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ArticlesPeer ReviewedFull Text
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
Author / Creator:Vill, Katharina ; Müller-Felber, Wolfgang ; Gläser, Dieter ; Kuhn, Marius ; Teusch, Veronika ; Schreiber, Herbert ; Weis, Joachim ; Klepper, Jörg ; Schirmacher, Anja ; Blaschek, Astrid ; Wiessner, Manuela ; Strom, Tim M ; Dräger, Bianca ; Hofmeister-Kiltz, Kristina ; Tacke, Moritz ; Gerstl, Lucia ; Young, Peter ; Horvath, Rita ; Senderek, Jan
Publisher:Springer Science and Business Media LLC
Journal title:Human Genetics, 2018-11, Vol.137, p.911-919
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Quantitative assessment of plantar pressure patterns in relation to foot deformities in people with hereditary motor and sensory neuropathies
Author / Creator:Bloks, Bente E. ; Wilders, Lise M. ; Louwerens, Jan Willem K. ; Geurts, Alexander C. ; Nonnekes, Jorik ; Keijsers, Noël L.W.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroengineering and rehabilitation, 2023-05, Vol.20 (1), p.65-10, Article 65
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A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
Author / Creator:Rzepnikowska, Weronika ; Kaminska, Joanna ; Kabzińska, Dagmara ; Binięda, Katarzyna ; Kochański, Andrzej
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-06, Vol.21 (12), p.4277
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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
Author / Creator:Shchagina, O A ; Milovidova, T B ; Murtazina, A F ; Rudenskaya, G E ; Nikitin, S S ; Dadali, E L ; Polyakov, A V
Publisher:Dordrecht: Springer Nature B.V
Journal title:Molecular biology reports, 2020-02, Vol.47 (2), p.1331-1337
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Practically applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies (HMSN)
Author / Creator:Loewenbrück, Kai F ; Dittrich, Markus ; Böhm, Josef ; Klingelhöfer, Jürgen ; Baum, Petra ; Schäfer, Jochen ; Heinz Reichmann ; Hermann, Andreas ; Storch, Alexander
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2018-01, Vol.265 (1), p.165-177
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Hereditary motor and sensory neuropathies: a biological perspective
Author / Creator:Shy, Michael E ; Garbern, James Y ; Kamholz, John
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2002-06, Vol.1 (2), p.110-118
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Analysis of primary diagnostics of hereditary motor and sensory neuropathies in the Republic of Bashkortostan
Author / Creator:Saifullina, E. V. ; Magzhanov, R. V. ; Khidiiatova, I. M. ; Khusnutdinova, E. K.
Publisher:ABV-press
Journal title:Nervno-myshechnye bolezni, 2017-05, Vol.7 (1), p.37-42
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Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease
Author / Creator:Bellofatto, Marta ; Gentile, Luca ; Bertini, Alessandro ; Tramacere, Irene ; Manganelli, Fiore ; Fabrizi, Gian Maria ; Schenone, Angelo ; Santoro, Lucio ; Cavallaro, Tiziana ; Grandis, Marina ; Previtali, Stefano C ; Scarlato, Marina ; Allegri, Isabella ; Padua, Luca ; Pazzaglia, Costanza ; Villani, Flavio ; Cavalca, Eleonora ; Saveri, Paola ; Quattrone, Aldo ; Valentino, Paola ; Tozza, Stefano ; Russo, Massimo ; Mazzeo, Anna ; Vita, Giuseppe ; Piacentini, Sylvie ; Didato, Giuseppe ; Pisciotta, Chiara ; Pareyson, Davide ; Schirinzi, Giulia ; Montesano, Maria ; Nuzzo, Sara ; Oggiano, Francesca ; Calabrese, Daniela ; Gemelli, Chiara ; Falzone, Yuri ; Spina, Emanuele ; Longo, Maria ; Occhipinti, Giuseppe ; Iabichella, Giacomo ; Barone, Stefania
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2023-11, Vol.270 (11), p.5561-5568
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Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies)
Author / Creator:Postelmans, J T F ; Stokroos, R J
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Journal of laryngology and otology, 2006-06, Vol.120 (6), p.508-510
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ArticlesPeer ReviewedFull Text
Hereditary neuropathy with liability to pressure palsies with Guillian-Barré syndrome-like presentation: one case report Hereditary neuropathy with liability to pressure palsies with Guillian-Barré sy...
Author / Creator:Zhi LIN ; Jian-ping LI
Publisher:Tianjin Huanhu Hospital
Journal title:Zhongguo xian dai shen jing ji bing za zhi, 2019-01, Vol.19 (1), p.64-67
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ArticlesPeer ReviewedFull Text
A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia
Author / Creator:Bamaga, Ahmed K. ; Alyazidi, Anas S. ; Alali, Feryal K.
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2025-04, Vol.15 (4), p.403
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ArticlesPeer ReviewedFull Text
Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy
Author / Creator:Alves de Baptista, Cyntia Rogean de Jesus ; Nascimento-Elias, Adriana ; Lemos, Tenysson Will ; Garcia, Beatriz ; Calori, Paula Domingues ; Mattiello-Sverzut, Ana Claudia
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-10, Vol.13 (10), p.e0204949
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Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic
Author / Creator:Kranthi, P ; Garuda, Butchi ; Gopi, S ; Kumar, T
Publisher:Mumbai: Wolters Kluwer India Pvt. Ltd
Journal title:Neurology India, 2020-09, Vol.68 (5), p.1217-1219
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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach
Author / Creator:Johnson, Nicholas ; McCorquodale, Donald ; Pucillo, Evan
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Journal of multidisciplinary healthcare, 2016-01, Vol.9 (1), p.7-19
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A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree
Author / Creator:Rahmani, Behrouz ; Fekrmandi, Fatemeh ; Ahadi, Keivan ; Ahadi, Tannaz ; Alavi, Afagh ; Ahmadiani, Abolhassan ; Asadi, Sareh
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2018-11, Vol.18 (1), p.195-8, Article 195
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ArticlesPeer ReviewedFull Text
The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy
Author / Creator:Kim, Young ; Kim, Du
Publisher:Mumbai: Wolters Kluwer India Pvt. Ltd
Journal title:Neurology India, 2020-09, Vol.68 (5), p.1232-1234
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ArticlesPeer ReviewedFull Text
Analysis of clinical phenotype and genetic mutation on one case of hereditary neuropathy with liability to pressure palsies presenting brachial plexus injury as the first manifestation Analysis of cli...
Author / Creator:Qing LIU ; Hai CHEN ; Lin LEI ; Wen-jia ZHU ; Li DI ; Yan LU ; Min WANG ; Suo-bin WANG ; Yu-wei DA
Publisher:Tianjin Huanhu Hospital
Journal title:Zhongguo xian dai shen jing ji bing za zhi, 2018-02, Vol.18 (2), p.123-127
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Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease
Author / Creator:Vinci, P ; Gargiulo, P
Publisher:Italy
Journal title:European journal of physical and rehabilitation medicine, 2008-03, Vol.44 (1), p.27
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Reference EntriesFull Text
Hereditary Neuropathy with Liability to Pressure Palsies
Author / Creator:Brogan, Ray ; Nurmi, Deborah
Journal title:The Gale Encyclopedia of Genetic Disorders: F-O, 2016, p.908-910
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Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review
Author / Creator:Nicholson, G
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 1995-05, Vol.58 (5), p.523-525
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Showing 1 to 20 of 294 results

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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

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Quantitative assessment of plantar pressure patterns in relation to foot deformities in people with hereditary motor and sensory neuropathies

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A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

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Practically applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies (HMSN)

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Hereditary motor and sensory neuropathies: a biological perspective

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Analysis of primary diagnostics of hereditary motor and sensory neuropathies in the Republic of Bashkortostan

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Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

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Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies)

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Hereditary neuropathy with liability to pressure palsies with Guillian-Barré syndrome-like presentation: one case report Hereditary neuropathy with liability to pressure palsies with Guillian-Barré sy...

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A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia

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Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy

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Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic

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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach

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A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

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The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy

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Analysis of clinical phenotype and genetic mutation on one case of hereditary neuropathy with liability to pressure palsies presenting brachial plexus injury as the first manifestation Analysis of cli...

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Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease

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Hereditary Neuropathy with Liability to Pressure Palsies

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Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review

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