EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Item
http://www.wikidata.org/entity/Q34615422
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaGenetics of hereditary neurological disorders in childrenGenetic testing in neurological diseases.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Hereditary ataxias: overview.EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowingClinical and genetic study of hereditary spastic paraplegia in Canada.Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients.Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition.Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report.
P2860

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Item
http://www.wikidata.org/entity/Q34615422
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@ast
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@en
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@nl
type
label
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@ast
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@en
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@nl
prefLabel
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@ast
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@en
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1468-1331.2009.02873.X
P433
P478
P50
P577
P5875
P698