Pages that link to "Q50278036"

The following pages link to Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. (Q50278036):

Displaying 32 items.

• Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis (Q24302479) (← links)
• Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles (Q26773168) (← links)
• A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism (Q27301268) (← links)
• Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia (Q28118650) (← links)
• Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration (Q30489465) (← links)
• The secreted MSP domain of C. elegans VAPB homolog VPR-1 patterns the adult striated muscle mitochondrial reticulum via SMN-1 (Q33830454) (← links)
• The C. elegans VAPB homolog VPR-1 is a permissive signal for gonad development (Q33830458) (← links)
• VAPB/ALS8 MSP ligands regulate striated muscle energy metabolism critical for adult survival in caenorhabditis elegans (Q34988024) (← links)
• Network analyses reveal novel aspects of ALS pathogenesis (Q35234991) (← links)
• Vascular perfusion abnormalities in infants with spinal muscular atrophy (Q35647933) (← links)
• Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis. (Q35885618) (← links)
• Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response (Q36188863) (← links)
• hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction (Q36451026) (← links)
• Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice (Q36513305) (← links)
• Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons (Q37220668) (← links)
• Cytoplasmic dynein in neurodegeneration (Q37855127) (← links)
• State of the art and the dark side of amyotrophic lateral sclerosis. (Q37871837) (← links)
• Vitamin D as a potential therapy in amyotrophic lateral sclerosis (Q38178758) (← links)
• VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis (Q39008904) (← links)
• A histomorphometric study of unmyelinated fibers of the fibular nerve in Wistar rats. (Q39757376) (← links)
• Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated VAP-B(P56S) neurotoxicity. (Q40188215) (← links)
• Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment (Q41874848) (← links)
• Incredibly close-A newly identified peroxisome-ER contact site in humans. (Q42323509) (← links)
• The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case (Q42855100) (← links)
• A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics (Q47673916) (← links)
• No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland (Q47716521) (← links)
• Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation (Q50243882) (← links)
• Expression of vesicle-associated membrane-protein-associated protein B cleavage products in peripheral blood leukocytes and cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis. (Q53076018) (← links)
• The VAMP-associated protein VAPB is required for cardiac and neuronal pacemaker channel function (Q89026045) (← links)
• Organelle interplay-peroxisome interactions in health and disease (Q92319318) (← links)
• VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology (Q92635935) (← links)
• The type II integral ER membrane protein VAP-B homolog in C. elegans is cleaved to release the N-terminal MSP domain to signal non-cell-autonomously (Q101451609) (← links)