Genetics of Neurodegeneration with Brain Iron Accumulation

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

(2010) A Tonelli et al.   CLINICAL GENETICS

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia

(2010) John C. Fyfe et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Indian-subcontinent NBIA: Unusual phenotypes, novelPANK2mutations, and undetermined genetic forms

(2010) Annu Aggarwal et al.   MOVEMENT DISORDERS

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

(2010) H. Yoshino et al.   NEUROLOGY

Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

(2010) Laura A. Engel et al.   PLoS One

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

(2010) A. Rana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

(2009) Hiroko Hama   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Intraventricular baclofen for dystonia: techniques and outcomes

(2009) A. Leland Albright et al.   Journal of Neurosurgery-Pediatrics

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration

(2008) Mohamad A. Mikati et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Huntington's disease phenocopies are clinically and genetically heterogeneous

(2008) Edward J. Wild et al.   MOVEMENT DISORDERS

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

(2008) A. McNeill et al.   NEUROLOGY

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

(2008) Y. P. Ning et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

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

(2008) M. A. Kurian et al.   NEUROLOGY