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Movement Disorders, ISSN 0885-3185, 01/2016, Volume 31, Issue 1, pp. 62 - 69
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Journal Article
Brain, ISSN 0006-8950, 05/2016, Volume 139, Issue 5, pp. 1378 - 1393
Journal Article
Neurology, ISSN 0028-3878, 10/2018, Volume 91, Issue 14, pp. e1307 - e1311
OBJECTIVETo document the decline of upper and lower limb functions, mobility, and independence in daily living activities in adults with autosomal recessive... 
POPULATION | EXTREMITY MOTOR COORDINATION | RELIABILITY | ARSACS | SCALE | VALIDITY | RECESSIVE SPASTIC ATAXIA | CLINICAL NEUROLOGY | BALANCE
Journal Article
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 209 - 217
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We... 
NEURODEGENERATIVE DISORDERS | COMPLEX | ACTIVATION | PROTEIN | HEREDITARY SPASTIC PARAPLEGIA | FORM | ELONGATION | GENETICS & HEREDITY | POLYUNSATURATED FATTY-ACIDS | ENDOPLASMIC-RETICULUM | CIS-GOLGI
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2010, Volume 42, Issue 4, pp. 313 - 321
Journal Article
Neurology, ISSN 0028-3878, 03/2015, Volume 84, Issue 11, pp. 1174 - 1176
Late-onset ataxias are clinically and etiologically diverse. Patients rarely have defining clinical features, and many remain classified as idiopathic, despite... 
SPASTIC PARAPLEGIA | MITOCHONDRIAL | M-AAA PROTEASE | CLINICAL NEUROLOGY | Metalloendopeptidases - genetics | Young Adult | ATPases Associated with Diverse Cellular Activities | Follow-Up Studies | Humans | Middle Aged | Adult | Female | Male | Ataxia - genetics | Mutation - genetics | Ataxia - diagnosis | Index Medicus | Abridged Index Medicus | Clinical | 298 | 312 | Scientific Notes | 163 | 174
Journal Article
European Journal of Neurology, ISSN 1351-5101, 01/2019, Volume 26, Issue 1, pp. 80 - 86
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2012, Volume 259, Issue 5, pp. 869 - 878
The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix–Saguenay, based on the findings presented herein. Five... 
Neurology | Pontocerebellar fibre hyperplasia | Neurosciences | Medicine & Public Health | ARSACS | Straight dorsal spine | Retinal nerve fibre hyperplasia | Neuroradiology | Peripheral and central myelinopathy | PHENOTYPE | DISORDERS | RECESSIVE SPASTIC ATAXIA | CLINICAL NEUROLOGY | FEATURES | FAMILY | MUTATION | DISEASE | NEUROPATHIES | SACSIN-RELATED ATAXIA | Tomography, Optical Coherence | Humans | Middle Aged | Spinocerebellar Ataxias - diagnostic imaging | Male | Neural Conduction - physiology | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - congenital | Spinocerebellar Ataxias - pathology | Mutation - genetics | Muscle Spasticity - pathology | Disease Progression | Radiography | Heat-Shock Proteins - genetics | Diffusion Magnetic Resonance Imaging | Brain - pathology | Adult | Female | Muscle Spasticity - physiopathology | Muscle Spasticity - diagnostic imaging | Muscle Spasticity - genetics | Spinocerebellar Ataxias - genetics | Ataxia | Development and progression | Diagnosis | Research | Risk factors | Index Medicus | Compression | Pons | Spine | Muscles | Optics | Retina | Neuropathy | Pyramidal tracts | Intervertebral discs | Electrophysiological recording | Nerve conduction | Magnetic resonance imaging | Neurodegeneration | Tomography | Skull | spasticity | Mutation | Denervation
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2017, Volume 12, Issue 3, pp. e0174667 - e0174667
Journal Article