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。MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy
Julia R. Dahlqvist et al.
ANNALS OF NEUROLOGY (2020)
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy
Shiroh Miura et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review
Jose Berciano et al.
JOURNAL OF NEUROLOGY (2017)
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient
Petra Lassuthova et al.
NEUROMUSCULAR DISORDERS (2017)
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study
Jasper M. Morrow et al.
LANCET NEUROLOGY (2016)
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
Nivedita U. Jerath et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease
Bing-Wen Soong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Clinical implications of genetic advances in Charcot-Marie-Tooth disease
Alexander M. Rossor et al.
NATURE REVIEWS NEUROLOGY (2013)
Quantitative and Integrative Proteome Analysis of Peripheral Nerve Myelin Identifies Novel Myelin Proteins and Candidate Neuropathy Loci
Julia Patzig et al.
JOURNAL OF NEUROSCIENCE (2011)
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
Sinead M. Murphy et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
I-TASSER: a unified platform for automated protein structure and function prediction
Ambrish Roy et al.
NATURE PROTOCOLS (2010)
Classification and diagnosis of the inherited neuropathies
Mary M. Reilly
ANNALS OF INDIAN ACADEMY OF NEUROLOGY (2009)
The Role of Gβγ Subunits in the Organization, Assembly, and Function of GPCR Signaling Complexes
Denis J. Dupré et al.
Annual Review of Pharmacology and Toxicology (2008)
In Silico Analysis of Missense Substitutions Using Sequence-Alignment Based Methods
Sean V. Tavtigian et al.
HUMAN MUTATION (2008)
Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy
Tatjana Paternostro-Sluga et al.
JOURNAL OF REHABILITATION MEDICINE (2008)
Heterotrimeric G protein activation by G-protein-coupled receptors
William M. Oldham et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)
Neuropathology of Charcot-Marie-Tooth and related disorders
J. Michael Schroeder
NEUROMOLECULAR MEDICINE (2006)
Database resources of the National Center for Biotechnology
DL Wheeler et al.
NUCLEIC ACIDS RESEARCH (2003)
分享论文
