scholarly article | Q13442814 |
P356 | DOI | 10.1002/MDS.25868 |
P698 | PubMed publication ID | 24610255 |
P2093 | author name string | Christian P Schaaf | |
Amber J Stocco | |||
Geetanjali S Rathore | |||
P2860 | cites work | De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood | Q24320029 |
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. | Q34313397 | ||
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation | Q36904897 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | neurodegeneration | Q1755122 |
neurodegeneration with brain iron accumulation 5 | Q32140749 | ||
P304 | page(s) | 574-575 | |
P577 | publication date | 2014-03-07 | |
P1433 | published in | Movement Disorders | Q1486418 |
P1476 | title | Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. | |
P478 | volume | 29 |
Q49329445 | Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. |
Q37364099 | Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features |
Q38682634 | Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism |
Q52147775 | Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature. |
Q37127064 | Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases |
Q41534824 | Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy |
Q91785472 | Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum |
Q31065497 | WDR45 mutations in three male patients with West syndrome |
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