Literature DB >> 15639123

125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.

Luba Kalaydjieva1, Hanns Lochmüller, Ivailo Tournev, Frank Baas, Judit Beres, Jaume Colomer, Velina Guergueltcheva, Ralf Herrmann, Veronika Karcagi, Rosalind King, Toshiyuki Miyata, Andrea Müllner-Eidenböck, Tomohiko Okuda, Vedrana Milic Rasic, Manuela Santos, Beril Talim, Juan Vilchez, Maggie Walter, Andoni Urtizberea, Luciano Merlini.   

Abstract

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Year:  2004        PMID： 15639123     DOI： 10.1016/j.nmd.2004.09.008

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  11 in total

1.  The Consequence of a Founder Effect: CCR5-∆32, CCR2-64I and SDF1-3'A Polymorphism in Vlach Gypsy Population in Hungary.

Authors:  Emese Juhász; Judit Béres; Szilvia Kanizsai; Károly Nagy
Journal:  Pathol Oncol Res       Date:  2011-06-11       Impact factor: 3.201

2.  Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.

Authors:  Feifei Su; Jing Miao; Xuemei Liu; Xiaojing Wei; Xuefan Yu
Journal:  Exp Ther Med       Date:  2018-06-22       Impact factor: 2.447

3.  Atypical presentation of GNE myopathy with asymmetric hand weakness.

Authors:  John Karl L de Dios; Joseph A Shrader; Galen O Joe; Jeffrey C McClean; Kayla Williams; Robert Evers; May Christine V Malicdan; Carla Ciccone; Ami Mankodi; Marjan Huizing; John C McKew; David A Bluemke; William A Gahl; Nuria Carrillo-Carrasco
Journal:  Neuromuscul Disord       Date:  2014-08-07       Impact factor: 4.296

Review 4.  Mutation update for GNE gene variants associated with GNE myopathy.

Authors:  Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing
Journal:  Hum Mutat       Date:  2014-08       Impact factor: 4.878

Review 5.  GNE myopathy: current update and future therapy.

Authors:  Ichizo Nishino; Nuria Carrillo-Carrasco; Zohar Argov
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-07-07       Impact factor: 10.154

Review 6.  Congenital cataracts-facial dysmorphism-neuropathy.

Authors:  Luba Kalaydjieva
Journal:  Orphanet J Rare Dis       Date:  2006-08-29       Impact factor: 4.123

7.  Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.

Authors:  Teodora Chamova; Dora Zlatareva; Margarita Raycheva; Stoyan Bichev; Luba Kalaydjieva; Ivailo Tournev
Journal:  Behav Neurol       Date:  2015-04-28       Impact factor: 3.342

Review 8.  Primary care for the Roma in Europe: Position paper of the European forum for primary care.

Authors:  Pim de Graaf; Danica Rotar Pavlič; Erika Zelko; Marga Vintges; Sara Willems; Lise Hanssens
Journal:  Zdr Varst       Date:  2016-05-10

Review 9.  Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.

Authors:  Paula Juárez; Francesc Palau
Journal:  Neural Plast       Date:  2012-06-13       Impact factor: 3.599

10.  Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Authors:  Petra Lassuthova; Dana Sišková; Jana Haberlová; Iva Sakmaryová; Aleš Filouš; Pavel Seeman
Journal:  Orphanet J Rare Dis       Date:  2014-04-01       Impact factor: 4.123
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