Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

scientific article published on 7 March 2014

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/MDS.25868
P698PubMed publication ID24610255

P2093author name stringChristian P Schaaf
Amber J Stocco
Geetanjali S Rathore
P2860cites workDe novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodQ24320029
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 accumulationQ36904897
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectneurodegenerationQ1755122
neurodegeneration with brain iron accumulation 5Q32140749
P304page(s)574-575
P577publication date2014-03-07
P1433published inMovement DisordersQ1486418
P1476titleNovel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
P478volume29

Reverse relations

cites work (P2860)
Q49329445Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.
Q37364099Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features
Q38682634Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Q52147775Elevation 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.
Q37127064Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases
Q41534824Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Q91785472Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum
Q31065497WDR45 mutations in three male patients with West syndrome

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