Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

[1]  E. Shoubridge,et al.  Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. , 2015, Human molecular genetics.

[2]  J. Bouchard,et al.  Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay , 2013, Movement disorders : official journal of the Movement Disorder Society.

[3]  Jiannis Ragoussis,et al.  Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model , 2013, Brain : a journal of neurology.

[4]  P. Giunti,et al.  Clinical features of Friedreich's ataxia: classical and atypical phenotypes , 2013, Journal of neurochemistry.

[5]  B. Bender,et al.  Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum , 2013, Orphanet Journal of Rare Diseases.

[6]  H. Shimazaki,et al.  Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS , 2013, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[7]  L. Minati,et al.  Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series , 2013, European journal of neurology.

[8]  A. Montpetit,et al.  Diversity of ARSACS Mutations in French-Canadians , 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[9]  J. Stevens,et al.  The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits , 2012, Journal of Neurology, Neurosurgery & Psychiatry.

[10]  A. Ferreras,et al.  Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy? , 2012, British Journal of Ophthalmology.

[11]  H. Kremer,et al.  Reviewing the genetic causes of spastic-ataxias , 2012, Neurology.

[12]  M. Koenig,et al.  The autosomal recessive cerebellar ataxias. , 2012, The New England journal of medicine.

[13]  E. Shoubridge,et al.  Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) , 2012, Proceedings of the National Academy of Sciences.

[14]  Rhian Raftopoulos,et al.  The Application of Optical Coherence Tomography ( OCT ) in Neurological Disease , 2012 .

[15]  L. Pablo,et al.  New findings in the ataxia of Charlevoix–Saguenay , 2012, Journal of Neurology.

[16]  F. Pierelli,et al.  Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix‐Saguenay , 2011, European journal of neurology.

[17]  M. Reilly,et al.  Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay , 2011 .

[18]  A. Ferreras,et al.  Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients , 2011, Molecular vision.

[19]  V. Narayanan,et al.  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay , 2011, Journal of child neurology.

[20]  F. Hentati,et al.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. , 2011, Parkinsonism & related disorders.

[21]  D. Devos,et al.  Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay , 2011, The Cerebellum.

[22]  W. Robberecht,et al.  Mutations in SACS cause atypical and late-onset forms of ARSACS , 2010, Neurology.

[23]  J. Crolla,et al.  PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY , 2010, Neurology.

[24]  K. Boycott,et al.  Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient , 2009, Muscle & nerve.

[25]  T. Webb,et al.  The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 , 2009, Human molecular genetics.

[26]  R. Carrozzo,et al.  An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss , 2009, neurogenetics.

[27]  Christos Proukakis,et al.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms , 2008, The Lancet Neurology.

[28]  K. Devriendt,et al.  A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay , 2008, European Journal of Human Genetics.

[29]  J. Cruysberg,et al.  ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia , 2008, neurogenetics.

[30]  Y. Takiyama Sacsinopathies: Sacsin-related ataxia , 2008, The Cerebellum.

[31]  M. Sylvain,et al.  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients , 2007, American Journal of Neuroradiology.

[32]  H. Shimazaki,et al.  An unusual case of a spasticity-lacking phenotype with a novel SACS mutation , 2007, Journal of the Neurological Sciences.

[33]  J. Bouchard,et al.  Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population , 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[34]  H. Shimazaki,et al.  Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon , 2006, Neurology.

[35]  W. Hung,et al.  Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. , 2003, Archives of neurology.

[36]  E. Lander,et al.  ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF , 2000, Nature Genetics.

[37]  A. Harding,et al.  Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. , 1995, Brain : a journal of neurology.

[38]  A. Harding,et al.  The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. , 1994, Brain : a journal of neurology.

[39]  A. Barbeau,et al.  The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study , 1979, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.