Skip to main navigation
Skip to search
Skip to main content
WashU Medicine Research Profiles Home
Help & FAQ
Home
Profiles
Departments, Divisions and Centers
Research output
Search by expertise, name or affiliation
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
Robert C. Bucelli
, Khalid Arhzaouy
,
Alan Pestronk
, Sara K. Pittman
, Luisa Rojas
, Carolyn M. Sue
, Anni Evilä
, Peter Hackman
, Bjarne Udd
, Matthew B. Harms
,
Conrad C. Weihl
Department of Neurology
Institute of Clinical and Translational Sciences (ICTS)
Center of Regenerative Medicine
Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
Section of Neuromuscular Medicine
DBBS - Molecular Cell Biology
DBBS - Neurosciences
Hope Center for Neurological Disorders
Research output
:
Contribution to journal
›
Article
›
peer-review
83
Scopus citations
Overview
Fingerprint
Fingerprint
Dive into the research topics of 'SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles'. Together they form a unique fingerprint.
Sort by
Weight
Alphabetically
Keyphrases
SQSTM1
100%
Splicing mutation
100%
Distal Myopathy with Rimmed Vacuoles
100%
Distal Myopathy
57%
Ubiquitin-binding Domain
28%
Late-onset
14%
Immunohistochemistry
14%
Whole Exome Sequencing
14%
Amyotrophic Lateral Sclerosis
14%
Autosomal Dominant
14%
Distinct Patterns
14%
Frontotemporal Dementia
14%
Adaptor
14%
Alternative Splicing
14%
Skeletal muscle
14%
Autophagosome
14%
Pathogenicity
14%
Paget's Disease of Bone
14%
TAR DNA-binding Protein 43 (TDP-43)
14%
Western Blot Analysis
14%
Targeted Sequencing
14%
Autophagic
14%
Aggregated Protein
14%
Lower Extremity Weakness
14%
Muscle Pathology
14%
Expression Study
14%
Genetic Etiology
14%
Myopathic
14%
Ubiquitinated Proteins
14%
Inherited mutation
14%
Rimmed Vacuoles
14%
Rimmed Vacuolar Myopathy
14%
Muscle Localization
14%
Medicine and Dentistry
Vacuolization
100%
Distal Myopathy
100%
Carboxy Terminal Sequence
60%
Exome Sequencing
40%
Ubiquitin
40%
Immunohistochemistry
20%
Synapsin I
20%
Weakness
20%
Paget Bone Disease
20%
Western Blot
20%
Autosomal Dominant Inheritance
20%
Muscle Disease
20%
Frontotemporal Lobar Degeneration
20%
Myopathy
20%
Amyotrophic Lateral Sclerosis
20%
Autophagosome
20%
Pathogenicity
20%
TAR DNA Binding Protein
20%
Sequestosome 1
20%
Ubiquitinated Protein
20%
Skeletal Muscle
20%
Inherited Mutation
20%
Biochemistry, Genetics and Molecular Biology
C-Terminus
100%
Splice Site Mutation
100%
Exome Sequencing
66%
Ubiquitin
66%
Skeletal Muscle
33%
Genetics
33%
Autosomal Dominant Inheritance
33%
Autophagosome
33%
Synapsin I
33%
Western Blot
33%
TAR DNA Binding Protein
33%
Sequestosome 1
33%
Inherited Mutation
33%
Neuroscience
Muscle Disorder
100%
C-Terminus
50%
Exome Sequencing
33%
Ubiquitin
33%
Immunohistochemistry
16%
Amyotrophic Lateral Sclerosis
16%
Frontotemporal Dementia
16%
Western Blot
16%
TAR DNA Binding Protein
16%
Skeletal Muscle
16%
Synapsin I
16%
Electromyography
16%
Sequestosome 1
16%
Ubiquitinated Protein
16%
Inherited Mutation
16%