Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autor: Friedmar Kreuz, Johannes Schwarz, Janina Gburek-Augustat, Stefan Krüger, Jan Senderek, Martin Schöning, Julia Schicks, Karl-Titus Hoffmann, Sabine Rudnik-Schöneborn, Matthis Synofzik, Kathrin N. Karle, Patrick MacLeod, Peter Bauer, Rebecca Schüle, Saskia Biskup, Tobias B. Haack, Ludger Schöls, Benjamin Bender, Anne S. Soehn
Rok vydání: 2013
Předmět:
pathology [Spinocerebellar Ataxias]
Pathology
medicine.medical_specialty
Ataxia
Hereditary spastic paraplegia
physiopathology [Spinocerebellar Ataxias]
Mutation
Missense
Genes
Recessive
genetics [Muscle Spasticity]
Corpus callosum
Magnetic resonance imaging
medicine
Recessive ataxia
Genetics
congenital [Spinocerebellar Ataxias]
Humans
Spinocerebellar Ataxias
Genetics(clinical)
Pharmacology (medical)
ddc:610
genetics [Spinocerebellar Ataxias]
Spasticity
Genetics (clinical)
Medicine(all)
Cerebral atrophy
physiopathology [Muscle Spasticity]
Cerebellar ataxia
business.industry
Research
Spastic ataxia
General Medicine
medicine.disease
Electrophysiology
Early onset ataxia
Peripheral neuropathy
Phenotype
Thin corpus callosum
Muscle Spasticity
Spinocerebellar ataxia
Charcot Marie Tooth
medicine.symptom
business
pathology [Muscle Spasticity]
Zdroj: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 8(1), 41 (2013). doi:10.1186/1750-1172-8-41
Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-41
Popis: Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41
Published by BioMed Central, London
Databáze: OpenAIRE
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