Peripheral nerve disease

Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy
Luis J Leandro-García, Lucía Inglada-Pérez, Guillermo Pita, Elisabet Hjerpe, Susanna Leskelä, Carlos Jara, Xabier Mielgo, Anna González-Neira, Mercedes Robledo, Elisabeth Åvall-Lundqvist, Henrik Gréen, Cristina Rodríguez-Antona

Journal of Medical Genetics Sep 2013, 50 (9) 599-605; DOI: 10.1136/jmedgenet-2012-101466
Neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant, Michel Vidaud, Dominique Vidaud, Pierre Wolkenstein

Journal of Medical Genetics Aug 2012, 49 (8) 483-489; DOI: 10.1136/jmedgenet-2012-100978
Clinical mitochondrial genetics
Patrick F Chinnery, Neil Howell, Richard M Andrews, Douglass M Turnbull

Journal of Medical Genetics Jun 1999, 36 (6) 425-436; DOI: 10.1136/jmg.36.6.425
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani

Journal of Medical Genetics Dec 2016, 53 (12) 846-849; DOI: 10.1136/jmedgenet-2016-104194
An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
Maria J Baker, Alisa M Goldstein, Patricia L Gordon, Kimberly S Harbaugh, Heath B Mackley, Michael J Glantz, Joseph J Drabick

Journal of Medical Genetics Nov 2016, 53 (11) 721-727; DOI: 10.1136/jmedgenet-2015-103446
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg

Journal of Medical Genetics Jun 2016, 53 (6) 389-396; DOI: 10.1136/jmedgenet-2015-103457
Independent NF1 mutations in two large families with spinal neurofibromatosis
L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, M Pöyhönen

Journal of Medical Genetics Feb 2003, 40 (2) 122-126; DOI: 10.1136/jmg.40.2.122
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic

Journal of Medical Genetics Feb 2016, 53 (2) 123-126; DOI: 10.1136/jmedgenet-2015-103177
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3
E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, V Timmerman

Journal of Medical Genetics Mar 2004, 41 (3) 193-197; DOI: 10.1136/jmg.2003.012633
A clinical study of type 1 neurofibromatosis in north west England
J M McGaughran, D I Harris, D Donnai, D Teare, R MacLeod, R Westerbeek, H Kingston, M Super, R Harris, D G R Evans

Journal of Medical Genetics Mar 1999, 36 (3) 197-203; DOI: 10.1136/jmg.36.3.197

Main menu

Peripheral nerve disease

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Peripheral nerve disease

Pages