Genes for autosomal recessive cerebellar ataxia: order from chaos?

Genes for autosomal recessive cerebellar ataxia: order from chaos?

Bibliographic Details
Main Authors:	Nemeth, A, Dunne, E, Bomont, P, Moreira, M, Bochukova, E, Huson, S, Taylor, A, Koenig, M
Format:	Journal article
Published:	2001

Similar Items

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
by: Németh, A, et al.
Published: (2000)

Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34
by: Moreira, M, et al.
Published: (2002)

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.
by: Izatt, L, et al.
Published: (2004)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
by: Worth, P, et al.
Published: (1999)

The future of diagnostics in Cerebellar Ataxias
by: Nemeth, A
Published: (2010)

R-Loops in proliferating cells but not in the brain : implications for AOA2 and other autosomal recessive ataxias
by: Yeo, Abrey J., et al.
Published: (2014)

Candidate screening of the TRPC3 gene in cerebellar ataxia.
by: Becker, E, et al.
Published: (2011)

Candidate screening of the TRPC3 gene in cerebellar ataxia.
by: Becker, E, et al.
Published: (2011)

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
by: Fogel, B, et al.
Published: (2015)

Robotic compensation of cerebellar ataxia
by: Smith, Eric D., S.M. Massachusetts Institute of Technology
Published: (2008)

Autoantibody screening in subacute cerebellar ataxia.
by: Trivedi, R, et al.
Published: (2000)

Associative learning in patients with cerebellar ataxia.
by: Tucker, J, et al.
Published: (1996)

Development of AAV-mediated gene therapy for autosomal recessive bestrophinopathy
by: Wood, S
Published: (2017)

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
by: Steckley, J, et al.
Published: (2001)

Autosomal recessive transmission of chorea-acanthocytosis confirmed.
by: Danek, A, et al.
Published: (2012)

Autosomal recessive transmission of chorea-acanthocytosis confirmed
by: Danek, A, et al.
Published: (2012)

From Mice to Men: TRPC3 in Cerebellar Ataxia.
by: Becker, E
Published: (2015)

MAPPING THE GENE FOR ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR-ATAXIA TO CHROMOSOME-19P
by: Bulman, D, et al.
Published: (1995)

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
by: von Brederlow, B, et al.
Published: (1995)

Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.
by: Watson, L, et al.
Published: (2015)

Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia.
by: Becker, E, et al.
Published: (2012)

Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia.
by: Becker, E, et al.
Published: (2012)

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
by: Johnston, JJ, et al.
Published: (2018)

Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells
by: Wong, M, et al.
Published: (2017)

Cerebellar ataxia in non-paraneoplastic Lambert-Eaton myasthenic syndrome.
by: Lorenzoni, P, et al.
Published: (2008)

Characterization of autosomal recessive Parkinson disease-linked parkin mutations.
by: Ng, Xiao Hui.
Published: (2009)

The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.
by: Becker, E
Published: (2014)

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
by: Parkinson, D, et al.
Published: (1992)

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
by: El-Aziz, A, et al.
Published: (2008)

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
by: Cutts, A, et al.
Published: (2019)

Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients.
by: Honnorat, J, et al.
Published: (2001)

A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.
by: Isaacs, A, et al.
Published: (2003)

A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse
by: Isaacs, A, et al.
Published: (2003)

Polymyoclonus, laryngospasm, and cerebellar ataxia associated with adenocarcinoma and multiple neural cation channel autoantibodies
by: Lim, S., et al.
Published: (2009)

Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia.
by: Mirabelli-Badenier, M, et al.
Published: (2012)

Understanding the disease mechanisms of cerebellar ataxia through induced pluripotent stem cell models
by: Wong, M
Published: (2018)

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
by: Kwasniewska, A, et al.
Published: (2011)

Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
by: Nagy, S, et al.
Published: (2024)

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
by: Moreira, M, et al.
Published: (2004)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
by: Fiorentino, A, et al.
Published: (2018)