Associated Papers
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.
Faergeman SL et al.
Cell Death & Disease, 2020
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW et al.
Brain : a Journal of Neurology, 2019
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G et al.
The Turkish Journal of Pediatrics, 2017
Novel FA2H mutation in a girl with familial spastic paraplegia.
Aguirre-Rodríguez FJ et al.
Journal of the Neurological Sciences, 2015
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
Zaki MS et al.
Clinical Genetics, 2015
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.
Marelli C et al.
Movement Disorders Clinical Practice, 2015
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
Donkervoort S et al.
Clinical Genetics, 2014
Heterozygous FA2H mutations in autism spectrum disorders.
Scheid I et al.
Bmc Medical Genetics, 2013
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Rupps R et al.
Journal of Child Neurology, 2013
A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
Cao L et al.
Journal of the Neurological Sciences, 2013
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
Tonelli A et al.
European Journal of Neurology, 2012
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Garone C et al.
Developmental Medicine and Child Neurology, 2011
Central nervous system dysfunction in a mouse model of FA2H deficiency.
Potter KA et al.
Glia, 2011
Genetics of neurodegeneration with brain iron accumulation.
Gregory A et al.
Current Neurology and Neuroscience Reports, 2011
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Kruer MC et al.
Annals of Neurology, 2010
Neurodegeneration with brain iron accumulation.
Gregory A et al.
Folia Neuropathologica, 2005