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。Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives
Maria Teresa Pallotta et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2019)
Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry
Heather M. Lugar et al.
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WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
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Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome
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Neuroimaging evidence of deficient axon myelination in Wolfram syndrome
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SCIENTIFIC REPORTS (2016)
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients
Maria E. Blanco-Aguirre et al.
GENE (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
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GENETICS IN MEDICINE (2015)
Impairment of Visual Function and Retinal ER Stress Activation in Wfs 1-Deficient Mice
Delphine Bonnet Wersinger et al.
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Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
Miguel Lopez de Heredia et al.
GENETICS IN MEDICINE (2013)
Early Brain Vulnerability in Wolfram Syndrome
Tamara Hershey et al.
PLOS ONE (2012)
Identification of p.A684V Missense Mutation in the WFS1 Gene as a Frequent Cause of Autosomal Dominant Optic Atrophy and Hearing Impairment
Nanna D. Rendtorff et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Primary diagnosis of Wolfram syndrome in an adult patient - Case report and description of a novel pathogenic mutation
Anne Waschbisch et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
P Amati-Bonneau et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2003)
WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
K Takeda et al.
HUMAN MOLECULAR GENETICS (2001)
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