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Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

auteur

Giovanni Stevanin

1968 -

Alexandra Dürr

1962 -

Andrew B. Singleton

1972 -

Alexis Brice

1957 -

Matthias Hammerschmidt

Stephan Züchner

Marie Coutelier

gepubliceerd in: Neurology. Genetics

publicatiedatum: 2018-01-19

belangrijk thema: Calcineurin like EF-hand protein 1

Cites articles 38

Date

Titel

Auteurs

2017-01-20

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Gudrun Nürnberg, Peter Nürnberg, Matthias Hammerschmidt, Alexander Hoischen, Kathryn J Swoboda
2016

Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome
2016-06-14

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

Reedik Mägi, Ants Kurg, Andres Salumets
2015-07-29

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

Ada Hamosh
2015-05-18

A Comprehensive Profile of ChIP-Seq-Based Olig2 Target Genes in Motor Neuron Progenitor Cells Suggests the Possible Involvement of Olig2 in the Pathogenesis of Amyotrophic Lateral Sclerosis
2015-04-11

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

Alexis Brice, Marie Coutelier, Giovanni Stevanin
2015-05

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Jean-Laurent Casanova, Lihadh Al-Gazali, Hulya Kayserili, Rasim Ozgur Rosti, Ashleigh Schaffer, Vincent Cantagrel, Ghada M Abdel-Salam, Maha Zaki, Brett Copeland, Samira Ismail, Mona S Aglan, Samia A Temtamy, Gennaro Napolitano, Stacey Gabriel, Joseph G Gleeson, Jennifer L Silhavy, Jana Schroth, Matloob Azam, Keith K Vaux, Amira Masri, Naiara Akizu, Esra Dikoglu, Basak Rosti, Isabelle Desguerre, Murat Günel, Pascale de Lonlay
2014-09-08

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Mireille Claustres, Larry Fliegel
2014-01-01

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

Jodi Warman Chardon, Jeremy Schwartzentruber, Guy A. Rouleau, Robert A. Hegele, Kym M Boycott, Mark A Tarnopolsky, Jacek Majewski, FORGE Canada, Chandree L Beaulieu, Dennis E Bulman
2013-07-01

CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis
2013-05-23

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

Jeremy D. Schmahmann, Elaine T Lim, Andrew A Dwyer, Janet E. Hall, Nicholas Katsanis, Aubrey Milunsky, Mark Daly, Lacey Plummer, Stephanie B Seminara, E. Tessa Hedley-Whyte
2012-06-01

Recent advances in the genetics of cerebellar ataxias
2012-02-20

BNC1 is required for maintaining mouse spermatogenesis

George L Gerton, Hung Tseng
2012-01-01

Overview of autosomal recessive ataxias
2011-08-01

Dual functional significance of calcineurin homologous protein 1 binding to Na(+)/H(+) exchanger isoform 1
2010-07-30

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

Mary-Claire King, Karen M Chisholm, Tom Walsh, Ephrat Levy-Lahad, John Marius Opitz
2009-05-14

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 management.

Mathieu Anheim, Dominique Stoppa-Lyonnet
2007-03-28

Loss of calcineurin homologous protein-1 in chicken B lymphoma DT40 cells destabilizes Na+/H+ exchanger isoform-1 protein
2006-12-15

Zebrafish as a powerful vertebrate model system for in vivo studies of cell death

Matthias Hammerschmidt
2006-10-18

Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1

Chojiro Kojima
2006-05-19

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

Albert-László Barabási, Jean-François Rual, Chad Shaw, Huda Zoghbi, Marc Vidal
2006-05-01

Basonuclin: a novel mammalian maternal-effect gene

Hung Tseng
2006-02-03

Microarray analysis of gene expression patterns in adult spinal motoneurons after different types of axonal injuries.

Iain Bruce
2005-09-14

Neuromuscular synapses can form in vivo by incorporation of initially aneural postsynaptic specializations.

Joshua R. Sanes
2005-06-29

Structural characterization of calcineurin B homologous protein 1.
2004-12-01

Interactions among p22, glyceraldehyde-3-phosphate dehydrogenase and microtubules

Margarida Barroso
2004-03-30

Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements
2002-06-01

Toxic proteins in neurodegenerative disease

John Hardy
2002-01-01

The changing face of the Na+/H+ exchanger, NHE1: structure, regulation, and cellular actions
2002-01-01

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

Adriano Aguzzi, Lukas Kenner, Kurt Zatloukal, Martina Schnölzer, Marco Prinz, Helmut Denk
2002-01

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Stacey S Cherny
2001-08-01

Increased neuronal excitability and seizures in the Na(+)/H(+) exchanger null mutant mouse

Artike - wd:Q49174285

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