Centre de documentació: resultats de cerca

Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
Autor/s:
Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K, Yamazaki H, Suetsugi N, Kawajiri S, Yamasaki R, Ishiguro T, Konno T, Nozaki H, Kasuga K, Okuma Y, Kira JI, Hara H, Onodera O, Ikeuchi T
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e292.abstract
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
Autor/s:
Pulit SL, Weng LC, McArdle PK, Trinquart L, Choi SH, Mitchell BD, Rosand J, de Bakker PIW, Benjamin EJ, Ellinor PT, Kittner SJ, Lubitz SA, Anderson CD
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e293.abstract
Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
Autor/s:
Sim NS, Seo Y, Lim JS, Kim WK, Son H, Kim HD, Kim S, An HJ, Kang HC, Kim SH, Kim DS, Lee JH
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e294.abstract
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Autor/s:
Sedghi M, Salari M, Moslemi AR, Kariminejad A, Davis M, Goullée H, Olsson B, Laing N, Tajsharghi H
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e295.abstract
Screening of novel restless legs syndrome–associated genes in French-Canadian families
Autor/s:
Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e296.abstract
Development of a rapid functional assay that predicts GLUT1 disease severity
Autor/s:
Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e297.abstract
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
Autor/s:
Hemelsoet DM, Vanlander AV, Smet J, Vantroys E, Acou M, Goethals I, Sante T, Seneca S, Menten B, Coster RV
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e298.abstract
Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
Autor/s:
Tojima M, Murakami G, Hikawa R, Yamakado H, Yamashita H, Takahashi R, Matsui M
Clinical/Scientific Notes
Any publicació:
2018
http://ng.neurology.org/content/4/6/e283.extract
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
Autor/s:
Deeb R, Veerapandiyan A, Tawil R, Treidler S
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e284.extract
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
Autor/s:
Madigan NN, Tracy JA, Litchy WJ, Niu Z, Chen C, Ling K, Milone M
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e287.extract

Una iniciativa de:

Cercador

Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

Screening of novel restless legs syndrome–associated genes in French-Canadian families

Development of a rapid functional assay that predicts GLUT1 disease severity

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

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