Ausgabe 1/2015
Inhalt (9 Artikel)
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Senda Ajroud-Driss, Faisal Fecto, Kaouther Ajroud, Irfan Lalani, Sarah E. Calvo, Vamsi K. Mootha, Han-Xiang Deng, Nailah Siddique, Albert J. Tahmoush, Terry D. Heiman-Patterson, Teepu Siddique
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7
L. Velázquez-Pérez, C. M. Cerecedo-Zapata, O. Hernández-Hernández, E. Martínez-Cruz, Y. S. Tapia-Guerrero, R. González-Piña, J. Salas-Vargas, R. Rodríguez-Labrada, R. Gurrola-Betancourth, N. Leyva-García, B. Cisneros, J. J. Magaña
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
Ruth Sheffer, Odeya Bennett-Back, Barak Yaacov, Simon Edvardson, Moshe Gomori, Marion Werner, Duha Fahham, Irene Anteby, Ayala Frumkin, Vardiella Meiner, Orly Elpeleg
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases
Elena Sinkiewicz-Darol, Andressa Ferreira Lacerda, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Beata Sokołowska, Dagmara Kabzińska, Craig R. Brunetti, Irena Hausmanowa-Petrusewicz, Andrzej Kochański
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Magdalena Zimoń, Esra Battaloğlu, Yesim Parman, Sevim Erdem, Jonathan Baets, Els De Vriendt, Derek Atkinson, Leonardo Almeida-Souza, Tine Deconinck, Burcak Ozes, Dirk Goossens, Sebahattin Cirak, Philip Van Damme, Mohammad Shboul, Thomas Voit, Lionel Van Maldergem, Bernard Dan, Mohammed S. El-Khateeb, Velina Guergueltcheva, Eduardo Lopez-Laso, Nathalie Goemans, Amira Masri, Stephan Züchner, Vincent Timmerman, Haluk Topaloğlu, Peter De Jonghe, Albena Jordanova
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
P. Laššuthová, D. Šafka Brožková, M. Krůtová, J. Neupauerová, J. Haberlová, R. Mazanec, N. Dvořáčková, Z. Goldenberg, P. Seeman
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
Marialuisa Quadri, Xu Yang, Giovanni Cossu, Simone Olgiati, Valeria M. Saddi, Guido J. Breedveld, Limei Ouyang, Jingchu Hu, Na Xu, Josja Graafland, Valeria Ricchi, Daniela Murgia, Leonor Correia Guedes, Claudio Mariani, Maria J. Marti, Patrizia Tarantino, Rosanna Asselta, Francesc Valldeoriola, Monica Gagliardi, Gianni Pezzoli, Mario Ezquerra, Aldo Quattrone, Joaquim Ferreira, Grazia Annesi, Stefano Goldwurm, Eduardo Tolosa, Ben A. Oostra, Maurizio Melis, Jun Wang, Vincenzo Bonifati
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
Michael J. Keogh, D. Daud, A. Pyle, J. Duff, H. Griffin, L. He, C. L. Alston, H. Steele, S. Taggart, A. P. Basu, R. W. Taylor, R. Horvath, V. Ramesh, Patrick F. Chinnery
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
Panagiotis I. Sergouniotis, Rahat Perveen, Dawn L. Thiselton, Konstantinos Giannopoulos, Marios Sarros, Jennifer R. Davies, Susmito Biswas, Alec M. Ansons, Jane L. Ashworth, I. Christopher Lloyd, Graeme C. Black, Marcela Votruba