Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: Novel mutations in SETX

Keywords

Persona, Geography, Humanities, Sociology, Art

References

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• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Ceù Moreira, Sandra Klur, Masao Watanabe — 2004

Cited by

• A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)上田崇, 長嶋隆夫, 小山正樹 — 2009
• Saccades and Eye–Head Coordination in Ataxia with Oculomotor Apraxia Type 2Muriel Panouillères, Solène Frismand, Olivier Sillan — 2013
• Estudio de un caso de hipoalbuminemia severaBelén Vila Dorrio, Patricia Blanco, Marta Diaz Ondina — 2012
• Hereditary ataxias: overviewSuman Jayadev, Thomas D. Bird — 2013
• Saccharomyces cerevisiae Sen1 as a Model for the Study of Mutations in Human Senataxin That Elicit Cerebellar AtaxiaXin Chen, Ulrika Müller, Kaitlin E. Sundling — 2014
• Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxinGiovanni Airoldi, Andrea Guidarelli, Orazio Cantoni — 2010
• An unusual case of familial ALS and cerebellar ataxiaSadia Yasser, Faisal Fecto, Teepu Siddique — 2010
• The role of the DNA damage response in neuronal development, organization and maintenance.Ari Barzilai, Sharon Biton, Yosef Shiloh — 2008
• In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndromeAlexander G. Bassuk, Y. Z. Chen, Sat Dev Batish — 2006
• Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral SclerosisJulien Couthouis, Alya R. Raphael, Roxana Daneshjou — 2014
• A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxiaPaschalis Nicolaou, Anthi Georghiou, Christina Votsi — 2008
• DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factorsEdward C. Gilmore — 2014
• Les ataxies cérébelleuses autosomiques récessivesMathieu Anheim — 2011
• “Pseudodominant inheritance” of ataxia with ocular apraxia type 2 (AOA2)Lüdger Schöls, Larissa Arning, Rebecca Schüle — 2008
• Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damageRicardo H. Roda, Carlo Rinaldi, Rajat Singh — 2014
• Prevalence of Spinocerebellar Degenerations in the Hokuriku District in JapanAyumi Shibata‐Hamaguchi, Chiho Ishida, Kazuo Iwasa — 2009
• Dysregulation of axonal transport and motorneuron diseasesD. Sau, P. Rusmini, V. Crippa — 2011
• Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2Veronica Bernard, Martina Minnerop, Katrin Bürk — 2009
• Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin geneTobias B. Haack, Douglas Friday, Andreas Bender — 2009
• Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasiaS S Devgan, Özden Sanal, Carsten Doil — 2011

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