Volume 16; Issue 3

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neurogenetics
Volume 16; Issue 3

neurogenetics

Volume 16; Issue 3

1

Milestones in Friedreich ataxia: more than a century and still learning

Abrahão, Agessandro, Pedroso, José Luiz, Braga-Neto, Pedro, Bor-Seng-Shu, Edson, de Carvalho Aguiar, Patricia, Barsottini, Orlando Graziani Povoas

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 828 KB

english, 2015

2

Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability

Akkad, Denis A., Bellenberg, Barbara, Esser, Sarika, Weiler, Florian, Epplen, Jörg T., Gold, Ralf, Lukas, Carsten, Haghikia, Aiden

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 792 KB

english, 2015

3

A novel frameshift mutation inFGF14causes an autosomal dominant episodic ataxia

Choquet, Karine, La Piana, Roberta, Brais, Bernard

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 253 KB

english, 2015

4

A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32

Sargiannidou, Irene, Kim, Gun-Ha, Kyriakoudi, Styliana, Eun, Baik-Lin, Kleopa, Kleopas A.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.99 MB

english, 2015

5

Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease

Chao, Yin Xia, Ng, Ebonne Yulin, Foo, Jia Nee, Liu, Jianjun, Zhao, Yi, Tan, Eng-King

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 82 KB

english, 2015

6

Association of a common genetic variant within ANKK1 with six-month cognitive performance after traumatic brain injury

Yue, John K., Pronger, Angela M., Ferguson, Adam R., Temkin, Nancy R., Sharma, Sourabh, Rosand, Jonathan, Sorani, Marco D., McAllister, Thomas W., Barber, Jason, Winkler, Ethan A., Burchard, Esteban G

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 355 KB

english, 2015

7

Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate

Fittschen, M., Lastres-Becker, I., Halbach, M. V., Damrath, E., Gispert, S., Azizov, M., Walter, M., Müller, S., Auburger, G.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 915 KB

english, 2015

8

Long intervening non-coding RNA 00320 is human brain-specific and highly expressed in the cortical white matter

Mills, James D., Chen, Jieqiong, Kim, Woojin S., Waters, Paul D., Prabowo, Avanita S., Aronica, Eleonora, Halliday, Glenda M., Janitz, Michael

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2015

9

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J.,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 732 KB

english, 2015

10

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

Duarri, A., Nibbeling, E., Fokkens, M. R., Meijer, M., Boddeke, E., Lagrange, E., Stevanin, G., Brice, A., Durr, A., Verbeek, D. S.

Journal:

Année:

2015

Fichier:

PDF, 67 KB

2015

11

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

Liu, Xinxiu, Chen, Jiayu, liu, Wenchao, Li, Xiaogang, Chen, Qi, Liu, Tao, Gao, Shaorong, Deng, Min

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.24 MB

english, 2015

12

MRPS22mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

Baertling, Fabian, Haack, Tobias B., Rodenburg, Richard J., Schaper, Jörg, Seibt, Annette, Strom, Tim M., Meitinger, Thomas, Mayatepek, Ertan, Hadzik, Berit, Selcan, Gündüz, Prokisch, Holger, Distelma

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 368 KB

english, 2015