Neurology® Genetics. vol. 5 n. 1

Neurology® Genetics. vol. 5 n. 1

Volumen:

Veure revista:

Neurology® Genetics

Any publicació:

2019

En aquest número

Correction
Correction for: Pulst SM. The complex structure of ATXN2 genetic variation. Neurol Genet. 2018 Dec 6;4(6):e299. doi: 10.1212/NXG.0000000000000299
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e311
Article
Gene variants of adhesion molecules predispose to MS: A case-control study
Autor/s:
Dardiotis E, Panayiotou E, Siokas V, Aloizou AM, Christodoulou K, Hadjisavvas A, Pantzaris M, Grigoriadis N, Hadjigeorgiou GM, Kyriakides T
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e304
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
Autor/s:
Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ
Views & Reviews
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e306
2018: Year in Review and Message from the Editors to Our Reviewers
Autor/s:
Pulst SM, Roos RP, Durr A, Vance JM, Milone M, Pandolfo M
The Helix
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e309
Article
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
Autor/s:
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e305
Article
Copy number variation of LINGO1 in familial dystonic tremor
Autor/s:
Alakbarzade V, Iype T, Chioza BA, Singh R, Harlalka GV, Hardy H, Sreekantan-Nair A, Proukakis C, Peall K, Clark LN, Caswell R, Allen HL, Wakeling M, Chilton JK, Baple EL, ELouis ED, Warner TT, Crosby AH
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e307
Article
GNE genotype explains 20% of phenotypic variability in GNE myopathy
Autor/s:
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e308
Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing
Autor/s:
Klepek H, Goutman SA, Quick A, Kolb SJ, Roggenbuck J.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e301
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Autor/s:
de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 1
http://ng.neurology.org/content/5/1/e306

Una iniciativa de:

Cercador

Neurology® Genetics. vol. 5 n. 1

Neurology® Genetics. vol. 5 n. 1

En aquest número

Correction

Gene variants of adhesion molecules predispose to MS: A case-control study

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

2018: Year in Review and Message from the Editors to Our Reviewers

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

Copy number variation of LINGO1 in familial dystonic tremor

GNE genotype explains 20% of phenotypic variability in GNE myopathy

Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!