New findings in the ataxia of charlevoix-saguenay

Journal of Neurology

Volumn 259, Issue 5, 2012, Pages 869-878

  Gazulla, José ^a,b   Benavente, Isabel ^c   Vela, Ana Carmen ^a   Marín, Miguel Angel ^a   Pablo, Luis Emilio ^d   Tessa, Alessandra ^e   Barrena, María Rosario ^f   Santorelli, Filippo Maria ^e   Nesti, Claudia ^e   Modrego, Pedro ^a   Tintoré, María ^g   Berciano, José ^h  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b Hospital San Jorge ^*  (Spain)

^c HOSPITAL SAN JORGE   (Spain)

^d Hospital Universitario   (Spain)

^e NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^f Araclon Biotech Ltd   (Spain)

^g INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

^h HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

ARSACS; Peripheral and central myelinopathy; Pontocerebellar fibre hyperplasia; Retinal nerve fibre hyperplasia; Straight dorsal spine

Indexed keywords

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CLINICAL ARTICLE; DIFFUSION TENSOR IMAGING; ELECTROPHYSIOLOGY; FEMALE; HUMAN; HYPERTROPHY; KYPHOSIS; MALE; MISSENSE MUTATION; MYELIN DEFICIENCY; NERVE COMPRESSION; NERVE CONDUCTION DISORDER; NEUROIMAGING; NEUROPATHOLOGY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTICAL COHERENCE TOMOGRAPHY; PONS; PRIORITY JOURNAL; PYRAMIDAL TRACT; RETINA NERVE CELL; SPASTICITY; SPINE RADIOGRAPHY;

EID: 84862511535     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6269-5     Document Type: Article

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