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。A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)
Michaela Wiedmer et al.
G3-GENES GENOMES GENETICS (2016)
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs
Tendai Mhlanga-Mutangadura et al.
NEUROBIOLOGY OF DISEASE (2016)
Regulators of Autophagosome Formation in Drosophila Muscles
Jonathan Zirin et al.
PLOS GENETICS (2015)
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
G. Diane Shelton et al.
SKELETAL MUSCLE (2015)
Rab proteins: The key regulators of intracellular vesicle transport
Tanmay Bhuin et al.
EXPERIMENTAL CELL RESEARCH (2014)
Rab18 and a Rab18 GEF complex are required for normal ER structure
Andreas Gerondopoulos et al.
JOURNAL OF CELL BIOLOGY (2014)
DNA Testing in Neurologic Diseases
D. P. O'Brien et al.
JOURNAL OF VETERINARY INTERNAL MEDICINE (2014)
Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
R. Zeng et al.
JOURNAL OF VETERINARY INTERNAL MEDICINE (2014)
Loss-of-Function Mutations in TBC1 D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Ryan P. Liegel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Mark T. Handley et al.
HUMAN MUTATION (2013)
RML prions act through Mahogunin and Attractin-independent pathways
Teresa M. Gunn et al.
PRION (2013)
Sporadic Creutzfeldt-Jakob disease subtype-specific alterations of the brain proteome: Impact on Rab3a recycling
Joanna Gawinecka et al.
PROTEOMICS (2012)
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Danai Bem et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Role of Rab GTPases in Membrane Traffic and Cell Physiology
Alex H. Hutagalung et al.
PHYSIOLOGICAL REVIEWS (2011)
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
Deborah J. Morris-Rosendahl et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Encephalomyelopathy and Polyneuropathy Associated with Neuronal Vacuolation in Two Boxer Littermates
D. A. Geiger et al.
VETERINARY PATHOLOGY (2009)
Comparable myelinated nerve pathology in feline and human diabetes mellitus
Andrew P. Mizisin et al.
ACTA NEUROPATHOLOGICA (2007)
Mutation in rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
IA Aligianis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Peripheral nerve pathology in two Rottweilers with neuronal vacuolation and spinocerebellar degeneration
C Salvadori et al.
VETERINARY PATHOLOGY (2005)
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
IA Aligianis et al.
NATURE GENETICS (2005)
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
ML Katz et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
MICRO syndrome: An entity distinct from COFS syndrome
JM Graham et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Degenerative neurological and neuromuscular disease in young rottweilers
DR Davies et al.
JOURNAL OF SMALL ANIMAL PRACTICE (2003)
Polymicrogyria and motor neuropathy in micro syndrome
MC Nassogne et al.
NEUROPEDIATRICS (2000)
Prion protein deposition and abnormal synaptic protein expression in the cerebellum in Creutzfeldt-Jakob disease
I Ferrer et al.
NEUROSCIENCE (2000)