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Volume 5; Issue 4
Main
Neurology: Genetics
Volume 5; Issue 4
Neurology: Genetics
Volume 5; Issue 4
1
Congenital myopathies in the adult neuromuscular clinic
Nicolau, Stefan
,
Liewluck, Teerin
,
Tracy, Jennifer A.
,
Laughlin, Ruple S.
,
Milone, Margherita
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2019
2
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
Quadir, Asfia
,
Pontifex, Carly Sabine
,
Lee Robertson, Helen
,
Labos, Christopher
,
Pfeffer, Gerald
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2019
3
Missense mutations in DYT-TOR1A dystonia
Iqbal, Zafar
,
Koht, Jeanette
,
Pihlstrøm, Lasse
,
Henriksen, Sandra P.
,
Cappelletti, Chiara
,
Russel, Michael Bjørn
,
Norberto de Souza, Osmar
,
Skogseid, Inger Marie
,
Toft, Mathias
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 330 KB
Your tags:
english, 2019
4
MAPT p.V363I mutation
Ahmed, Sarah
,
Fairen, Monica Diez
,
Sabir, Marya S.
,
Pastor, Pau
,
Ding, Jinhui
,
Ispierto, Lourdes
,
Butala, Ankur
,
Morris, Christopher M.
,
Schulte, Claudia
,
Gasser, Thomas
,
Jabbari, Edwin
,
Pletnikova, O
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 590 KB
Your tags:
english, 2019
5
Genetic risk of Parkinson disease and progression:
Iwaki, Hirotaka
,
Blauwendraat, Cornelis
,
Leonard, Hampton L.
,
Liu, Ganqiang
,
Maple-Grødem, Jodi
,
Corvol, Jean-Christophe
,
Pihlstrøm, Lasse
,
van Nimwegen, Marlies
,
Hutten, Samantha J.
,
Nguyen, Khanh-Du
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 1.03 MB
Your tags:
english, 2019
6
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
Krenn, Martin
,
Milenkovic, Ivan
,
Eckstein, Gertrud
,
Zimprich, Fritz
,
Meitinger, Thomas
,
Foki, Thomas
,
Wagner, Matias
Journal:
Neurology: Genetics
Year:
2019
Language:
english
File:
PDF, 291 KB
Your tags:
english, 2019
7
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
Ziaei, Amin
,
Xu, Xiaohong
,
Dehghani, Leila
,
Bonnard, Carine
,
Zellner, Andreas
,
Jin Ng, Alvin Yu
,
Tohari, Sumanty
,
Venkatesh, Byrappa
,
Haffner, Christof
,
Reversade, Bruno
,
Shaygannejad, Vahid
,
Pouladi,
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 522 KB
Your tags:
2019
8
Altered CSF levels of monoamines in hereditary spastic paraparesis 10
Andréasson, Mattias
,
Lagerstedt-Robinson, Kristina
,
Samuelsson, Kristin
,
Solders, Göran
,
Blennow, Kaj
,
Paucar, Martin
,
Svenningsson, Per
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 200 KB
Your tags:
2019
9
Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 122 KB
Your tags:
2019
10
Human GABRG2 generalized epilepsy
Pedersen, Mangor
,
Kowalczyk, Magdalena
,
Omidvarnia, Amir
,
Perucca, Piero
,
Gooley, Samuel
,
Petrou, Steven
,
Scheffer, Ingrid E.
,
Berkovic, Samuel F.
,
Jackson, Graeme D.
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 374 KB
Your tags:
2019
11
New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy
Al-Tahan, Sejad
,
Weiss, Lan
,
Yu, Howard
,
Tang, Sha
,
Saporta, Mario
,
Vihola, Anna
,
Mozaffar, Tahseen
,
Udd, Bjarne
,
Kimonis, Virginia
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 981 KB
Your tags:
2019
12
Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 121 KB
Your tags:
2019
13
Missense mutations in DYT-TOR1A dystonia
Journal:
Neurology: Genetics
Year:
2019
File:
PDF, 299 KB
Your tags:
2019
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