4.5 Article

Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model

Warunee Dansithong et al.

PLOS GENETICS (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Clinical Neurology

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Pedro Gonzalez-Alegre et al.

TREMOR AND OTHER HYPERKINETIC MOVEMENTS (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Biochemistry & Molecular Biology

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

Stephen T. Hansen et al.

HUMAN MOLECULAR GENETICS (2013)

Review Clinical Neurology

The balance and gait disorder of essential tremor: what does this mean for patients?

David Arkadir et al.

THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS (2013)

Article Biochemistry & Molecular Biology

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt et al.

GENOME RESEARCH (2012)

Article Multidisciplinary Sciences

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Ginevra Zanni et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Biochemistry & Molecular Biology

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

Sharan Paul et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Review Clinical Neurology

It is time to remove the 'benign' from the essential tremor label

Elan D. Louis et al.

PARKINSONISM & RELATED DISORDERS (2011)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Review Neurosciences

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

Stephanie Schorge et al.

TRENDS IN NEUROSCIENCES (2010)

Article Genetics & Heredity

Spinocerebellar Ataxia Type 31 Is Associated with Inserted Penta-Nucleotide Repeats Containing (TGGAA)n

Nozomu Sato et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article

Essential Tremors

Elan D. Louis

ARCHIVES OF NEUROLOGY (2009)

Review Cell Biology

Emerging pathogenic pathways in the spinocerebellar ataxias

Kerri M. Carlson et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)

Review Physiology

Calcium Pumps in Health and Disease

Marisa Brini et al.

PHYSIOLOGICAL REVIEWS (2009)

Article Physiology

Plasma membrane Ca2+-ATPase: from a housekeeping function to a versatile signaling role

Marisa Brini

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2009)

Article Genetics & Heredity

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

Ginevra Zanni et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Biochemistry & Molecular Biology

The Homer-1 protein Ania-3 interacts with the plasma membrane calcium pump

V Sgambato-Faure et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Review Cell Biology

Caveolae and calcium handling, a review and a hypothesis

E. E. Daniel et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2006)

Article Biochemistry & Molecular Biology

Phylogenetics of rat inbred strains

MA Thomas et al.

MAMMALIAN GENOME (2003)

Article Biochemistry & Molecular Biology

Tryptophan 1093 is largely responsible for the slow off rate of calmodulin from plasma membrane Ca2+ pump 4b

AR Penheiter et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)