Literature DB >> 15159512

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

Robert H Baloh1, Joanna C Jen, Gilbert Kim, Robert W Baloh.   

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Year:  2004        PMID： 15159512     DOI： 10.1212/01.wnl.0000125287.98456.23

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.

Authors:  Maria João Malaquias; Catarina Mendes Pinto; Ana Sardoeira; Jorge Oliveira; João Parente Freixo; Ana Aires Silva; Pedro Abreu; Cristina Rosado Coelho; Joana Damásio; Nuno Vila-Chã; Marina Magalhães
Journal:  Neurol Sci       Date:  2020-11-13       Impact factor: 3.307

Review 2.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

3.  Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.

Authors:  D H Kilfoyle; P J Dyck; Y Wu; W J Litchy; D M Klein; P J B Dyck; N Kumar; J M Cunningham; C J Klein
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-08       Impact factor: 10.154

4.  Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

Authors:  Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano
Journal:  J Neurol       Date:  2009-12       Impact factor: 4.849

5.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Authors:  Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano
Journal:  J Neurol       Date:  2018-04-25       Impact factor: 4.849

Review 6.  Recessive cerebellar and afferent ataxias - clinical challenges and future directions.

Authors:  Marie Beaudin; Mario Manto; Jeremy D Schmahmann; Massimo Pandolfo; Nicolas Dupre
Journal:  Nat Rev Neurol       Date:  2022-03-24       Impact factor: 42.937

7.  A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.

Authors:  Xiaohui Duan; Weihong Gu; Ying Hao; Renbin Wang; Hong Wen; Shaojie Sun; Jinsong Jiao; Dongsheng Fan
Journal:  Front Aging Neurosci       Date:  2016-09-22       Impact factor: 5.750

8.  Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Authors:  Oranee Sanmaneechai; Shawna Feely; Steven S Scherer; David N Herrmann; Joshua Burns; Francesco Muntoni; Jun Li; Carly E Siskind; John W Day; Matilde Laura; Charlotte J Sumner; Thomas E Lloyd; Sindhu Ramchandren; Rosemary R Shy; Tiffany Grider; Chelsea Bacon; Richard S Finkel; Sabrina W Yum; Isabella Moroni; Giuseppe Piscosquito; Davide Pareyson; Mary M Reilly; Michael E Shy
Journal:  Brain       Date:  2015-08-25       Impact factor: 13.501

Review 9.  Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).

Authors:  Mathieu Dupré; Ruben Hermann; Caroline Froment Tilikete
Journal:  Cerebellum       Date:  2020-10-04       Impact factor: 3.847

10.  Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Authors:  Takaki Taniguchi; Masahiro Ando; Yuji Okamoto; Akiko Yoshimura; Yujiro Higuchi; Akihiro Hashiguchi; Kensuke Shiga; Arisa Hayashida; Taku Hatano; Hiroyuki Ishiura; Jun Mitsui; Nobutaka Hattori; Toshiki Mizuno; Masanori Nakagawa; Shoji Tsuji; Hiroshi Takashima
Journal:  Clin Genet       Date:  2020-11-27       Impact factor: 4.438
  10 in total

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