A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
about
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTAccurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.C19orf12 mutation leads to a pallido-pyramidal syndrome.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneNext-generation sequencing in understanding complex neurological diseaseAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Chromosome duplication (14q) and the genotype phenotype correlation.Next-generation sequencing for mitochondrial disordersExcess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Genetic and phenotypic variability of optic neuropathies.Exome sequencing: how to understand it.Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease.Ophthalmic manifestations of inherited neurodegenerative disorders.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeRapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.Brain iron takes off: a new propeller protein links neurodegeneration with autophagy.
P2860
Q33715521-D903E92F-B850-40C5-93EF-4E592E3CB421Q34744001-B9EFF665-3329-4B79-8D6D-0B2C4893091BQ35575559-FC7E8268-90AE-40B4-93CD-857E8C685B0CQ36055784-F03B572B-03AA-4588-9856-879FE5508EC4Q37331388-59EC8D05-A424-430E-8828-8A4F52C92FE5Q37589775-CEF062D6-9310-47EB-9DB1-7245A3D570C6Q37680081-851BE623-DBD1-4D6A-B78F-5CEEA7494C66Q37686243-71008889-A25C-41F9-83DA-4B5CF15CACD1Q38065116-1F55737F-DF41-477B-BC07-380FBFBDB5D2Q38094807-BFF1F9DE-0AFD-495A-98B7-6171D292D0C1Q38111181-925A9E57-A5DB-40AF-8E0A-6348F4FE2BB4Q38124286-6F74AF62-1AA4-4545-859D-67FC01BA2747Q38168700-721F9030-EC58-4284-AE7E-E5342FA9BACAQ38212813-7250F654-1DA9-4ED8-86DC-4E2E745EDE8AQ38258626-1650E5AC-C6BE-40A1-A658-C99A100E59C7Q41836301-F21917F0-4367-423B-B2E9-6503D923A6C6Q42149276-535DD46F-3B95-4160-A5D8-892AD6A3FC4AQ42518509-272A57E4-5F70-499C-AFB3-102916839EA2Q43503198-B4E67C0C-5298-4A33-A8E3-8CECEF16EB95Q44356168-F6D652E8-B82F-4554-A354-549EFCB3E2B7Q50993710-813F4631-CCD1-43BE-ACBF-3D1CDF8C2D5C
P2860
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@en
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@nl
type
label
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@en
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@nl
prefLabel
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@en
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@nl
P2093
P2860
P50
P356
P1433
P1476
A new phenotype of brain iron ...... hy, and peripheral neuropathy.
@en
P2093
Bernard Keavney
Birgit Neitzel
Charlotte Foley
Deephthi Ashok
Elke Holinski-Feder
Gavin Hudson
Gudrun Nürnberg
Ingelore Bässmann
John Loughlin
Jörg Kortler
P2860
P304
P356
10.1002/MDS.24980
P407
P50
P577
2012-04-16T00:00:00Z