Results 181 to 190 of about 21,283 (267)

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Xu J, Zhang X, Hua Y, Yang L, Shi D, Qiu S.   +5 more
europepmc   +1 more source

Hereditary Spastic Paraplegia

, 2016
Harvey S. Singer, Jonathan W. Mink, Donald L. Gilbert, Joseph Jankovic   +3 more
openaire   +2 more sources

Association of spinal cord structure with cognition in hereditary spastic paraplegia type 5. [PDF]

Front Neurol
Chen X, Lin K, Qiu L, Yuan R, Qiu Y, Bi J, Ye Z, Chen W, Wang N, Fu Y.   +9 more
europepmc   +1 more source

Botulinum Toxin Treatment in Hereditary Spastic Paraplegia-A Comprehensive Review and Update. [PDF]

Toxins (Basel)
Jabbari B, Comtesse S, Tavassoli F.
europepmc   +1 more source

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias. [PDF]

PLoS One
Spengler FAM, Brighente SF, Rodrigues Louzada AL, de Souza MER, Bevilacqua IP, Cubillos-Arcila DM, Saute JAM.   +6 more
europepmc   +1 more source

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience. [PDF]

Children (Basel)
Besen S, Özkale Y, Özkale M, Bozdoğan ST, Alkan Ö, Ceylaner S, Erol İ.   +6 more
europepmc   +1 more source

Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity. [PDF]

Ann Med Surg (Lond)
Mansour AN, Karadima G, Koutsis G, Salloum S.   +3 more
europepmc   +1 more source

A novel <i>KIDINS220</i> mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy. [PDF]

Front Neurosci
Chu X, Xu J, Zheng Y, Liu X, Yuan Y, Wu R.   +5 more
europepmc   +1 more source

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source