Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
about
Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsExome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationA novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectNovel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegenerationDeprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationNeuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of AcanthocytesThe genetics and neuropathology of Parkinson's diseaseDystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?Abnormal red cell structure and function in neuroacanthocytosisCrystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorderNeurodegeneration with brain iron accumulation: diagnosis and managementGenetics of neurodegeneration with brain iron accumulationClinical and genetic delineation of neurodegeneration with brain iron accumulationAlterations of red cell membrane properties in neuroacanthocytosisDeficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermiaLocalization and regulation of mouse pantothenate kinase 2Compartmentalization of mammalian pantothenate kinasesPantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblingsOpen-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.Deep brain stimulation for pantothenate kinase-associated neurodegeneration.Neuroimaging in spasticity and movement disorders.Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Neurodegeneration with brain iron accumulation.The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.Neuropareidolia: diagnostic clues apropos of visual illusions.Secondary dystonia-clinical clues and syndromic associationsNeuroferritinopathy: a new inborn error of iron metabolismDystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - IndiaHallervorden-Spatz syndrome: a rare cause of extrapyramidal manifestations.Secondary tics and tourettism.Neuroacanthocytosis syndromes.Movement disorders: role of imaging in diagnosis.Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Diagnosis of dystonic syndromes--a new eight-question approach.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.McLeod syndrome: a neurohaematological disorder.
P2860
Q21129274-09A1A3A9-C140-4D8C-BCB7-9953D9619811Q24315627-C810E277-BFE3-499E-8A7A-7B7C3220B59BQ24683169-3FF47C1E-A30C-482B-82DE-E5056784AD49Q24683208-C73E7481-44FD-4E91-8369-1FCED37B0CA8Q24684828-AD6DD30E-65D1-4811-AA69-C1107520361DQ26796388-7C8FDDB8-B1D3-4AA3-B201-271D2935CE20Q26859945-9AC1BF77-2001-48FC-BAF5-9904AB48588FQ27005740-71F6771A-5B7F-41A9-8792-72F12CA37324Q27308322-1C79634E-05C6-4497-8E2A-39E85C740091Q27646726-477E9283-892C-4A2B-B3DB-1FD0A8D16171Q28085510-71A434E2-79B9-40E7-A5A1-407DAD3889AFQ28304487-951A11E0-1AFD-497B-9F81-47F3C6DDCBE6Q28315639-5FA777C5-393B-4C92-8DDD-004A6CA6099DQ28534013-B40598ED-DCD0-445F-90FB-01EB7342A074Q28588602-6A865958-18E2-46B9-990A-19824406EBD8Q28588917-2B4C29C8-B9A4-4AF7-9365-B17B988567F4Q28593602-AEE1B8D4-C43D-427C-B066-D69D9279A270Q28661582-0B5CC879-2713-4EDD-92AF-E982FAFE82C0Q30355488-B285B3C3-D83D-4692-B437-7C79BE42D4A0Q30625721-4A54A6C0-158A-42B4-937E-A721D5E0D087Q30844890-8B54E967-7BB6-4820-BA5F-1E754A4FD03CQ30882077-D3F70802-9658-4115-A469-32DB06BF718FQ31029813-943AF081-2505-488C-9086-57812C1623EEQ31119739-3AD0B1BD-33E1-4E7B-8B81-161851A739B9Q33523533-CAC93049-B43F-4D42-B71D-1A01A8AD667AQ33636395-7A32E4C1-CB8A-4498-ACA7-DB598CF20BB4Q33685685-985C5567-BF8E-40AE-974F-38948E3FA854Q33742432-BADB00B0-5D8B-43FE-BA53-BCC193B7B325Q33867989-4B91A255-D8D1-4222-9A8E-0BF7FB4F43C1Q33875761-2A841F5F-4D68-49AF-916E-30E96C08FF64Q33979226-080D11B2-F817-4EE7-B97F-ECA8D4F5D099Q33986831-E4EBB4F3-BA78-40D6-A186-0A041A65F476Q34057716-5D8B3714-CA58-4C0F-8C12-CB9BECB21194Q34136898-B96BA929-982C-4469-BEA1-E52C5C3FCAB6Q34198997-C235409F-0A77-4C84-8DA3-3AE45D629BD3Q34202236-446F3A73-0639-44C7-82B6-D46D392E9F38Q34336776-5BFFE3CF-DF73-4AF6-B23A-CA7377C8FC8EQ34438061-F77CF653-EBAD-45D3-8A4A-4A3AB30C761EQ34568479-9B098E2E-0E97-4F2B-805F-D375C6E39940Q34660441-7AA8E7CB-4CB8-456F-803C-A730B9BDF631
P2860
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@ast
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@en
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@nl
type
label
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@ast
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@en
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@nl
prefLabel
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@ast
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@en
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@nl
P2093
P356
P1476
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
@en
P2093
Barbara Levinson
Jane Gitschier
Katherine H L Ching
Monique A Johnson
Shawn K Westaway
Susan J Hayflick
P356
10.1056/NEJMOA020817
P407
P577
2003-01-01T00:00:00Z