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Zeitschrift

neurogenetics

neurogenetics 2/2019

Ausgabe 2/2019

Inhaltsverzeichnis ( 8 Artikel )

25.03.2019 | Review Article | Ausgabe 2/2019

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota, Valerio Caputo, Giulia Campoli, Giulia Pagliaroli, Stefania Carboni, Julia Mela, Cristina Peconi, Stefano Gambardella, Raffaella Cascella, Emiliano Giardina

07.03.2019 | Original Article | Ausgabe 2/2019

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji

23.03.2019 | Original Article | Ausgabe 2/2019

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar

27.03.2019 | Original Article | Ausgabe 2/2019

Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm

Theresa A. Lansdell, Courtney Fisher, Kent Simmonds, Mat J. Reeves, Daniel Woo, Anne M. Dorrance, Stacie L. Demel

13.04.2019 | Original Article | Ausgabe 2/2019

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Edmund S. Cauley, Ahlam Hamed, Inaam N. Mohamed, Maha Elseed, Samantha Martinez, Ashraf Yahia, Fatima Abozar, Rayan Abubakr, Mahmoud Koko, Liena Elsayed, Xianhua Piao, Mustafa A. Salih, M. Chiara Manzini

21.03.2019 | Short Communication | Ausgabe 2/2019

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim, Deepika Reddy Dokuru, Victoria Van Berlo, Giovanna De Michele, Maria Lieto, Enrico Tedeschi, Giuseppe De Michele, Giovanni Coppola

28.03.2019 | Short Communication | Ausgabe 2/2019

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière, Judith St-Onge, Nassima Addour-Boudrahem, Alexandre Dionne Laporte, Guy A. Rouleau, Christine Saint-Martin, Myriam Srour

10.04.2019 | Short Communication | Ausgabe 2/2019

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Saud Alsahli, Ahmed Alfares, Francisco J. Guzmán-Vega, Stefan T. Arold, Duaa Ba-Armah, Fuad Al Mutairi

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