Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
about
Ataxia.High-Throughput Screening for Ligands of the HEPN Domain of SacsinLate-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationThe genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Progressive myoclonus epilepsy associated with SACS gene mutationsNovel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.Inherited neuropathies: an update.CIDP: mimics and chameleons.Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.Clinical Application of Fiber Visualization with LIC Maps Using Multidirectional Anisotropic Glyph Samples (A-Glyph LIC).Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Cerebellum and neuropsychiatric disorders: insights from ARSACS.A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-SaguenayAltered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACSAutosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
P2860
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P2860
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@ast
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@en
type
label
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@ast
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@en
altLabel
Autosomal recessive spastic at ...... clinical and imaging spectrum
@en
prefLabel
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@ast
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@en
P2093
P2860
P50
P356
P1476
Autosomal recessive spastic at ...... clinical and imaging spectrum.
@en
P2093
Anne S Soehn
Benjamin Bender
Friedmar Kreuz
Janina Gburek-Augustat
Johannes Schwarz
Julia Schicks
Kathrin N Karle
Martin Schöning
Peter Bauer
Sabine Rudnik-Schöneborn
P2860
P2888
P356
10.1186/1750-1172-8-41
P407
P577
2013-03-15T00:00:00Z
P5875
P6179
1044466055