Results 151 to 160 of about 21,283 (267)

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

Neurología
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general.
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

Hereditary Spastic Paraplegia

Yonsei Medical Journal, 1983
I S, Choi, H K, Cho, K W, Kim
openaire   +2 more sources

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society
Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic ...
Qingqing Wang, Manikum Moodley
doaj   +1 more source

HEREDITARY SPASTIC PARAPLEGIA [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1950
openaire   +2 more sources

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons.

Brain : a journal of neurology, 2022
Zhenyu Chen, E. Chai, Yongchao Mou, R. Roda, C. Blackstone, Xue-Jun Li   +5 more
semanticscholar   +1 more source

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome [PDF]

, 2016
OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1)
Blake, JC, Gonzalez, MA, Hanna, MG, Horga, A, Houlden, H, Laurà, M, Manzur, AY, Muntoni, F, Reilly, MM, Tomaselli, PJ, Züchner, S   +10 more
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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, Nogueira, Célia, Ribeiro, Diogo, Silva, Ana, Sá, Maria José, Vilarinho, Laura   +5 more
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Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia

Annals of Clinical and Translational Neurology
Biallelic 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, Ying Xiong, Lulu Wang, Min Zhu, Dandan Tan, Daojun Hong   +5 more
doaj   +1 more source

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2 [PDF]

, 2017
Summary We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for ∼40% of the families. Among 93 gene carriers, 32 (34%)
Bourgeois, S., Brice, A., Burgunder, J.-M, Cogilnicean, S., Coutinho, P., Davoine, C.-S, Dürr, A., Fontaine, B., Hazan, J., Lamy, C., Mas, J.-L, Paternotte, C., Penet, C., Prud'homme, J.-F, von Fellenberg, J., Weissenbach, J.   +15 more
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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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