New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. - Wikidata - awgldk - TriplyDB

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

http://www.wikidata.org/entity/Q36659362

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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation Iron dysregulation in Huntington's disease Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration Neurodegeneration with brain iron accumulation: diagnosis and management Alterations of red cell membrane properties in neuroacanthocytosis Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Newly characterized forms of neurodegeneration with brain iron accumulation.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Primary and secondary dystonic syndromes: an update.Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.The neuropathology of neurodegeneration with brain iron accumulation.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient.Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

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P2860

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

http://www.wikidata.org/entity/Q36659362

description

2012 nî lūn-bûn

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name

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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type

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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prefLabel

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

@ast

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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Allison Gregory

http://www.w3.org/2001/XMLSchema#string

Andrea Diedrich

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Callum Wilson

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Diana Rodriguez

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Elizabeth Berry-Kravis

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Huong Tran

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Isabelle Desguerre

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Jennifer G Goldman

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Lindsay Reese

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Lynn Sanford

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P2860

A method and server for predicting damaging missense mutations

SIFT: Predicting amino acid changes that affect protein function

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of α-synuclein.

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

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268-275

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10.1212/WNL.0B013E31827E07BE

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Randall L Woltjer

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3589182

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