Ausgabe 3/2014
Inhalt (11 Artikel)
Novel recessive myotilin mutation causes severe myofibrillar myopathy
Joachim Schessl, Elisa Bach, Simone Rost, Sarah Feldkirchner, Christiana Kubny, Stefan Müller, Franz-Georg Hanisch, Wolfram Kress, Benedikt Schoser
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
L. Armstrong, R. Biancheri, C. Shyr, A. Rossi, G. Sinclair, C. J. Ross, M. Tarailo-Graovac, W. W. Wasserman, C. D. M. van Karnebeek
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, Christine Saint-Martin, Kether Guerrero, Luan T. Tran, Eric Shoubridge, Marjo S. van der Knaap, Nancy Braverman, Geneviève Bernard
Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression
Anthony L. Traboulsee, Cecily Q. Bernales, Jay P. Ross, Joshua D. Lee, A. Dessa Sadovnick, Carles Vilariño-Güell
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
Mi-Hyun Park, Hae-Mi Woo, Young Bin Hong, Ji Hoon Park, Bo Ram Yoon, Jin-Mo Park, Jeong Hyun Yoo, Heasoo Koo, Jong-Hee Chae, Ki Wha Chung, Byung-Ok Choi, Soo Kyung Koo
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
Simone Olgiati, Anna De Rosa, Marialuisa Quadri, Chiara Criscuolo, Guido J. Breedveld, Marina Picillo, Sabina Pappatà, Mario Quarantelli, Paolo Barone, Giuseppe De Michele, Vincenzo Bonifati
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome
Suna Lahut, David Vadasz, Candan Depboylu, Vincent Ries, Martina Krenzer, Karin Stiasny-Kolster, A. Nazli Basak, Wolfgang H. Oertel, Georg Auburger
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Masaya Kubota, Taroh Kinoshita, Hirotomo Saitsu, Naomichi Matsumoto
‘Neuroinflammation’ differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases compared
Michaela D. Filiou, Ahmed Shamsul Arefin, Pablo Moscato, Manuel B. Graeber
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient
Charles D. Kassardjian, Margherita Milone
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification
Gaël Nicolas, Anne-Claire Richard, Cyril Pottier, Christophe Verny, Franck Durif, Emmanuel Roze, Pascal Favrole, Gabrielle Rudolf, Mathieu Anheim, Christine Tranchant, Thierry Frebourg, Dominique Campion, Didier Hannequin