Ausgabe 3/2015
Inhalt (12 Artikel)
Milestones in Friedreich ataxia: more than a century and still learning
Agessandro Abrahão, José Luiz Pedroso, Pedro Braga-Neto, Edson Bor-Seng-Shu, Patricia de Carvalho Aguiar, Orlando Graziani Povoas Barsottini
Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability
Denis A. Akkad, Barbara Bellenberg, Sarika Esser, Florian Weiler, Jörg T. Epplen, Ralf Gold, Carsten Lukas, Aiden Haghikia
Association of a common genetic variant within ANKK1 with six-month cognitive performance after traumatic brain injury
John K. Yue, Angela M. Pronger, Adam R. Ferguson, Nancy R. Temkin, Sourabh Sharma, Jonathan Rosand, Marco D. Sorani, Thomas W. McAllister, Jason Barber, Ethan A. Winkler, Esteban G. Burchard, Donglei Hu, Hester F. Lingsma, Shelly R. Cooper, Ava M. Puccio, David O. Okonkwo, Ramon Diaz-Arrastia, Geoffrey T. Manley
Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate
M. Fittschen, I. Lastres-Becker, M. V. Halbach, E. Damrath, S. Gispert, M. Azizov, M. Walter, S. Müller, G. Auburger
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32
Irene Sargiannidou, Gun-Ha Kim, Styliana Kyriakoudi, Baik-Lin Eun, Kleopas A. Kleopa
Long intervening non-coding RNA 00320 is human brain-specific and highly expressed in the cortical white matter
James D. Mills, Jieqiong Chen, Woojin S. Kim, Paul D. Waters, Avanita S. Prabowo, Eleonora Aronica, Glenda M. Halliday, Michael Janitz
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
Nadirah Damseh, Chris M. Danson, Motee Al-Ashhab, Bassam Abu-Libdeh, Matthew Gallon, Kanchan Sharma, Barak Yaacov, Elizabeth Coulthard, Maeve A. Caldwell, Simon Edvardson, Peter J. Cullen, Orly Elpeleg
The fused in sarcoma protein forms cytoplasmic aggregates in motor neurons derived from integration-free induced pluripotent stem cells generated from a patient with familial amyotrophic lateral sclerosis carrying the FUS-P525L mutation
Xinxiu Liu, Jiayu Chen, Wenchao liu, Xiaogang Li, Qi Chen, Tao Liu, Shaorong Gao, Min Deng
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia
Karine Choquet, Roberta La Piana, Bernard Brais
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
Fabian Baertling, Tobias B. Haack, Richard J. Rodenburg, Jörg Schaper, Annette Seibt, Tim M. Strom, Thomas Meitinger, Ertan Mayatepek, Berit Hadzik, Gündüz Selcan, Holger Prokisch, Felix Distelmaier
Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease
Yin Xia Chao, Ebonne Yulin Ng, Jia Nee Foo, Jianjun Liu, Yi Zhao, Eng-King Tan
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
A. Duarri, E. Nibbeling, M. R. Fokkens, M. Meijer, E. Boddeke, E. Lagrange, G. Stevanin, A. Brice, A. Durr, D. S. Verbeek