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European Journal of Medical Genetics|August 19, 2017
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulationRodolphe Dard, Claire Meyniel, Valérie Touitou, et al.Experimental Eye Research|July 20, 2002
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotypeTomas S Aleman, Artur V Cideciyan, Nicholas J Volpe, et al.Frontiers in Neuroscience|March 4, 2024
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11Michaela Hörner, Sandy Popp, Julien Branchu, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 17, 2015
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotypeAmanda Krause, Claire Mitchell, Fahmida Essop, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|December 31, 2010
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegiaMike Cleeter, Henry Houlden, Paul Simons, et al.Scientific Reports|January 18, 2025
Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopmentLiriopé Toupenet Marchesi, Daniel Stockholm, Typhaine Esteves, et al.Molecular and Cellular Neurosciences|December 6, 2005
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicityMorwena Latouche, Pascal Fragner, Elodie Martin, et al.Annals of Neurology|January 6, 2004
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2pGiovanni Stevanin, Naima Bouslam, Stéphane Thobois, et al.Movement Disorders : Official Journal of the Movement Disorder Society|March 24, 2010
LINGO1 polymorphisms are associated with essential tremor in EuropeansSandra Thier, Delia Lorenz, Michael Nothnagel, et al.Journal of Neurology|March 3, 2006
A new phenotype linked to SPG27 and refinement of the critical region on chromosomePascale Ribai, Giovanni Stevanin, Naima Bouslam, et al.Pageof 19