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Volume 15; Issue 3

Main
neurogenetics
Volume 15; Issue 3

neurogenetics

Volume 15; Issue 3

1

Overall mutational spectrum ofSLC20A2,PDGFBandPDGFRBin idiopathic basal ganglia calcification

Nicolas, Gaël, Richard, Anne-Claire, Pottier, Cyril, Verny, Christophe, Durif, Franck, Roze, Emmanuel, Favrole, Pascal, Rudolf, Gabrielle, Anheim, Mathieu, Tranchant, Christine, Frebourg, Thierry, Cam

Journal:

Year:

2014

Language:

english

File:

PDF, 96 KB

english, 2014

2

RecessiveC10orf2mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Park, Mi-Hyun, Woo, Hae-Mi, Hong, Young Bin, Park, Ji Hoon, Yoon, Bo Ram, Park, Jin-Mo, Yoo, Jeong Hyun, Koo, Heasoo, Chae, Jong-Hee, Chung, Ki Wha, Choi, Byung-Ok, Koo, Soo Kyung

Journal:

Year:

2014

Language:

english

File:

PDF, 1.96 MB

english, 2014

3

Coexistence ofDMPKgene expansion andCLCN1missense mutation in the same patient

Kassardjian, Charles D., Milone, Margherita

Journal:

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

4

Genetic variants inIL2RAandIL7Raffect multiple sclerosis disease risk and progression

Traboulsee, Anthony L., Bernales, Cecily Q., Ross, Jay P., Lee, Joshua D., Sadovnick, A. Dessa, Vilariño-Güell, Carles

Journal:

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

5

PARK20 caused bySYNJ1homozygous Arg258Gln mutation in a new Italian family

Olgiati, Simone, De Rosa, Anna, Quadri, Marialuisa, Criscuolo, Chiara, Breedveld, Guido J., Picillo, Marina, Pappatà, Sabina, Quarantelli, Mario, Barone, Paolo, De Michele, Giuseppe, Bonifati, Vincenz

Journal:

Year:

2014

Language:

english

File:

PDF, 3.25 MB

english, 2014

6

The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome

Lahut, Suna, Vadasz, David, Depboylu, Candan, Ries, Vincent, Krenzer, Martina, Stiasny-Kolster, Karin, Basak, A. Nazli, Oertel, Wolfgang H., Auburger, Georg

Journal:

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

7

Novel compound heterozygousPIGTmutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Nakashima, Mitsuko, Kashii, Hirofumi, Murakami, Yoshiko, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Kubota, Masaya, Kinoshita, Taroh, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Year:

2014

Language:

english

File:

PDF, 602 KB

english, 2014

8

Novel recessive myotilin mutation causes severe myofibrillar myopathy

Schessl, Joachim, Bach, Elisa, Rost, Simone, Feldkirchner, Sarah, Kubny, Christiana, Müller, Stefan, Hanisch, Franz-Georg, Kress, Wolfram, Schoser, Benedikt

Journal:

Year:

2014

Language:

english

File:

PDF, 5.65 MB

english, 2014

9

A homozygous mutation in theNDUFS1gene presents with a mild cavitating leukoencephalopathy

Kashani, Alireza, Thiffault, Isabelle, Dilenge, Marie-Emmanuelle, Saint-Martin, Christine, Guerrero, Kether, Tran, Luan T., Shoubridge, Eric, van der Knaap, Marjo S., Braverman, Nancy, Bernard, Genevi

Journal:

Year:

2014

Language:

english

File:

PDF, 370 KB

english, 2014

10

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

L. Armstrong,R. Biancheri,C. Shyr,A. Rossi,G. Sinclair,C. J. Ross…

Journal:

Year:

2014

Language:

english

File:

PDF, 276 KB

english, 2014