Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
about
Neurodegeneration with brain iron accumulation: diagnosis and managementWDR45 mutations in three male patients with West syndrome.Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.Lessons from a pair of siblings with BPAN.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
P2860
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P2860
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
description
2013 nî lūn-bûn
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name
Beta-propeller protein-associa ...... otype in three adult patients.
@en
Beta-propeller protein-associa ...... otype in three adult patients.
@nl
type
label
Beta-propeller protein-associa ...... otype in three adult patients.
@en
Beta-propeller protein-associa ...... otype in three adult patients.
@nl
prefLabel
Beta-propeller protein-associa ...... otype in three adult patients.
@en
Beta-propeller protein-associa ...... otype in three adult patients.
@nl
P2093
P1476
Beta-propeller protein-associa ...... otype in three adult patients.
@en
P2093
Bart P C van de Warrenburg
David A Koolen
Guido J Breedveld
Helger Yntema
Jos I M Egger
Simone Olgiati
Willem M A Verhoeven
P304
P356
10.1016/J.PARKRELDIS.2013.11.019
P577
2013-12-10T00:00:00Z