Works matching IS 13646745 AND DT 2017 AND VI 18 AND IP 4

Results: 9

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 185, doi. 10.1007/s10048-017-0520-x

By:

Miyake, Noriko;
Wolf, Nicole;
Cayami, Ferdy;
Crawford, Joanna;
Bley, Annette;
Bulas, Dorothy;
Conant, Alex;
Bent, Stephen;
Gripp, Karen;
Hahn, Andreas;
Humphray, Sean;
Kimura-Ohba, Shihoko;
Kingsbury, Zoya;
Lajoie, Bryan;
Lal, Dennis;
Micha, Dimitra;
Pizzino, Amy;
Sinke, Richard;
Sival, Deborah;
Stolte-Dijkstra, Irene

Publication type:

Article

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 195, doi. 10.1007/s10048-017-0521-9

By:

Zech, Michael;
Jech, Robert;
Wagner, Matias;
Mantel, Tobias;
Boesch, Sylvia;
Nocker, Michael;
Jochim, Angela;
Berutti, Riccardo;
Havránková, Petra;
Fečíková, Anna;
Kemlink, David;
Roth, Jan;
Strom, Tim;
Poewe, Werner;
Růžička, Evžen;
Haslinger, Bernhard;
Winkelmann, Juliane

Publication type:

Article

Acknowledgement to Referees 2016/2017.

Published in:: Neurogenetics, 2017, v. 18, n. 4, p. 251, doi. 10.1007/s10048-017-0522-8
Publication type:: Article

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 227, doi. 10.1007/s10048-017-0526-4

By:

Glasgow, Ruth;
Thompson, Kyle;
Barbosa, Inês;
He, Langping;
Alston, Charlotte;
Deshpande, Charu;
Simpson, Michael;
Morris, Andrew;
Neu, Axel;
Löbel, Ulrike;
Hall, Julie;
Prokisch, Holger;
Haack, Tobias;
Hempel, Maja;
McFarland, Robert;
Taylor, Robert

Publication type:

Article

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 207, doi. 10.1007/s10048-017-0523-7

By:

Pešović, Jovan;
Perić, S.;
Brkušanin, M.;
Brajušković, G.;
Rakočević-Stojanović, V.;
Savić-Pavićević, Dušanka

Publication type:

Article

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 245, doi. 10.1007/s10048-017-0524-6

By:

Sancho, Paula;
Sánchez-Monteagudo, Ana;
Collado, Antonio;
Marco-Marín, Clara;
Domínguez-González, Cristina;
Camacho, Ana;
Knecht, Erwin;
Espinós, Carmen;
Lupo, Vincenzo

Publication type:

Article

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5

By:

Maggi, Lorenzo;
Ravaglia, Sabrina;
Farinato, Alessandro;
Brugnoni, Raffaella;
Altamura, Concetta;
Imbrici, Paola;
Camerino, Diana;
Padovani, Alessandro;
Mantegazza, Renato;
Bernasconi, Pia;
Desaphy, Jean-François;
Filosto, Massimiliano

Publication type:

Article

GNE missense mutation in recessive familial amyotrophic lateral sclerosis.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 237, doi. 10.1007/s10048-017-0527-3

By:

Köroğlu, Çiğdem;
Yılmaz, Rezzak;
Sorgun, Mine;
Solakoğlu, Seyhun;
Şener, Özden

Publication type:

Article

Developing the field of neurogenetics.

Published in:

2017

By:

Müller, Ulrich;
Auburger, Georg;
Graeber, Manuel;
Ptacek, Louis

Publication type:

Editorial