A novel mutation in SACS gene in a family from southern Italy

Keywords

Frameshift mutation, Nonsense mutation, Genetics, Mutation, Nonsense

References

• Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian familyNajiba Fekih Mrissa, Samir Belal, C. Ben Hamida — 2000
• Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu‐Rebeix — 2002
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish FamiliesK. Gücüyener, Köksal Özgül, Caroline Paternotte — 2001
• Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori — 1998
• Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayJocelyne Mercier, Claude Prévost, James C. Engert — 2001
• Ataxias on the march from Quebec to TunisiaStefan-M. Pulst, Alessandro Filla — 2000
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.James C. Engert, Carole Doré, Jocelyne Mercier — 1999
• ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORFJames C. Engert, Pierre Bérubé, Jocelyne Mercier — 2000
• Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).Andréa Richter, Kelly Morgan, Bouchard Jp — 1993

Cited by

• Is the ataxia of Charlevoix-Saguenay a developmental disease?Irène Aubert — 2011
• Exclusion de liaison génétique au locus SPAX2 de cas canadiens-français d’ataxie spastiqueEmmanuelle Poirier St-Georges — 2011
• Disorders of mitochondrial DNA polymerase: a clinical, biochemical and structural studyEino Palin — 2013
• Recent Advances in Hereditary Spinocerebellar AtaxiasBart P.C. van de Warrenburg, Richard J. Sinke, Berry Kremer — 2005
• Other autosomal recessive and childhood ataxias.Giuseppe De Michele, Alessandro Filla — 2012
• Klinik und Genetik der rezessiven AtaxienChristine Zühlke, Friedmar R. Kreuz, Katrin Bürk — 2011
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Shinji Kamada, Satoshi Okawa, Tsuyoshi Imota — 2008
• Aspectos clínicos y moleculares de la ataxia de Friedreich y otras ataxias recesivas y esporádicasMarcela Fragoso‐Benítez, Marisol López, María Elisa Alonso — 2007
• Population history and its impact on medical genetics in QuebecA‐M Laberge, Jacques L. Michaud, Andréa Richter — 2005
• Clinical presentation and early evolution of spastic ataxia of Charlevoix‐SaguenayAntoine Duquette, Bernard Brais, Jean‐Pierre Bouchard — 2013
• Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-SaguenayChiara Criscuolo, Claudio Procaccini, Maria Chiara Meschini — 2015
• Novel SACS mutation in a Belgian family with sacsin-related ataxia.Yi Ouyang, Kurt Segers, Olivier Bouquiaux — 2008
• A phenotype without spasticity in sacsin-related ataxiaHaruo Shimazaki, Yoshihisa Takiyama, Kumi Sakoe — 2005
• Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical managementMathieu Anheim, Marie‐Céline Fleury, B. Monga — 2010
• Genetic disorders involving molecular-chaperone genes: A perspectiveAlberto J.L. Macario, Tomás M. Grippo, Everly Conway de Macario — 2005
• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaSascha Vermeer, Rowdy Meijer, Benjamin J. Pijl — 2008
• Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACSLaura Anesi, Paola de Gemmis, Massimo Pandolfo — 2011
• New findings in the ataxia of Charlevoix–SaguenayJosé Gazulla, Isabel Benavente‐Fernández, A. Vela — 2012
• A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–SaguenayJeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont — 2008
• Les ataxies cérébelleuses autosomiques récessivesMathieu Anheim — 2011

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