Publication & Citation Trends
Publications
93 total
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia PDF
Cited by 316
OpenAlex
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation PDF
Cited by 247
OpenAlex
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation PDF
Cited by 202
OpenAlex
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA PDF
Cited by 358
OpenAlex
New NBIA subtype
Cited by 180
OpenAlex
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration PDF
Cited by 123
OpenAlex
Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
Cited by 231
OpenAlex
Research Topics
Neurological diseases and metabolism
(55)
Metabolism and Genetic Disorders
(29)
Porphyrin Metabolism and Disorders
(18)
Metalloenzymes and iron-sulfur proteins
(13)
Hereditary Neurological Disorders
(9)
Affiliations
National Institutes of Health
Oregon Health & Science University
Guy's and St Thomas' NHS Foundation Trust
Saginaw Valley State University
Royal Lancaster Infirmary