Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia [PDF]
, 2013 Amir Boukhris +32 more
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Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism [PDF]
, 2013 Ji Seon Kim +5 more
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Distant homologies and domain conservation of the Hereditary Spastic Paraplegia protein SPG11/ALS5/spatacsin [PDF]
, 2020 Alexander Patto, Cahir J. O’Kane
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Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia
Annals of Clinical and Translational NeurologyBiallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese ...
Yusen Qiu +5 more
doaj +1 more source
Non‐motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations
, 2016 Katiane Raisa Servelhere +8 more
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Clinical and pathogenic themes in hereditary spastic paraplegia [PDF]
, 2020 Thomas T. Warner
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Neurodegeneration as a consequence of failed mitochondrial maintenance [PDF]
, 2018 Maintaining the functional integrity of mitochondria is pivotal for cellular survival. It appears that neuronal homeostasis depends on high-fidelity mitochondria, in particular.
Karbowski, Mariusz, Neutzner, Albert
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Metabolic Diseases: a differential diagnosis of primary progressive multiple sclerosis [PDF]
, 2019 Objectives: The overall aim of our research project is to develop a Next Generation Sequencing strategy to identify metabolic disorders in 104 patients with a presumptive diagnosis of primary progressive MS.We would like to thank to MERCK, SA and ...
Macário, Maria do Carmo +5 more
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Hereditary spastic paraplegia associated with thin corpus callosum [PDF]
, 2001 Hélio A.G. Teive +6 more
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