4.5 Review

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation

Rachel Mahoney et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Article Clinical Neurology

Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

Michael C. Kruer et al.

ANNALS OF NEUROLOGY (2010)

Article Genetics & Heredity

Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35)

Katherine J. Dick et al.

HUMAN MUTATION (2010)

Article Clinical Neurology

ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

Susanne A. Schneider et al.

MOVEMENT DISORDERS (2010)

Article Clinical Neurology

Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism

Coro Paisan-Ruiz et al.

ANNALS OF NEUROLOGY (2009)

Editorial Material Clinical Neurology

Dystonia-Parkinsonism Disease Gene Discovery: Expect Surprises

Susan J. Hayflick

ANNALS OF NEUROLOGY (2009)

Article Clinical Neurology

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

F. Sina et al.

EUROPEAN JOURNAL OF NEUROLOGY (2009)

Review Genetics & Heredity

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

A. Gregory et al.

JOURNAL OF MEDICAL GENETICS (2009)

Article Genetics & Heredity

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Editorial Material Pediatrics

Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia

C. Isaac et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2008)

Article Clinical Neurology

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

Ines Carrilho et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)

Review Clinical Neurology

The neurological presentation of ceruloplasmin gene mutations

Alisdair McNeill et al.

EUROPEAN NEUROLOGY (2008)

Article Clinical Neurology

Neurodegeneration associated with genetic defects in phospholipase A2

A. Gregory et al.

NEUROLOGY (2008)

Article Education, Special

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

K. Freeman et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2007)

Article Clinical Neurology

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation

Roberta Biancheri et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2007)

Article Radiology, Nuclear Medicine & Medical Imaging

Correlation of proton transverse relaxation rates (R2) with iron concentrations in postmortem brain tissue from Alzheimer's disease patients

Michael J. House et al.

MAGNETIC RESONANCE IN MEDICINE (2007)

Article Genetics & Heredity

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

Shareef Khateeb et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Endocrinology & Metabolism

Dietary rescue of fumble -: a Drosophila model for pantothenate-kinase-associated neurodegeneration

Y Yang et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

Article Clinical Neurology

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

P Castelnau et al.

ANNALS OF NEUROLOGY (2005)

Article Biochemistry & Molecular Biology

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

YM Kuo et al.

HUMAN MOLECULAR GENETICS (2005)

Article Biochemistry & Molecular Biology

Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2γ)

H Tanaka et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)

Article Genetics & Heredity

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

A Mubaidin et al.

JOURNAL OF MEDICAL GENETICS (2003)

Article Medicine, General & Internal

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

SJ Hayflick et al.

NEW ENGLAND JOURNAL OF MEDICINE (2003)

Article Clinical Neurology

Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome

JL Molinuevo et al.

MOVEMENT DISORDERS (2003)