Results 121 to 130 of about 40,084 (217)

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia. [PDF]

Metab Brain Dis
Erhardt C, Spatz IT, Herrmann HJ, Kohl Z, Zopf Y, Gassner H, Winkler J, Regensburger M.   +7 more
europepmc   +1 more source

Paraplegia [PDF]

, 1984
openaire   +1 more source

Prolonged Follow-Up of a Case of Takayasu's Arteritis Presenting with Spastic Paraplegia Secondary to Thoracic Compressive Myelopathy. [PDF]

Eur J Case Rep Intern Med
Spiteri M, Farrugia V, Frendo M.
europepmc   +1 more source

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort. [PDF]

J Neurol
Amprosi M, Indelicato E, Eigentler A, Boesch D, Fritz J, Nachbauer W, Boesch S.   +6 more
europepmc   +1 more source

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management. [PDF]

Hum Genomics
Yousaf H, Ali S, Moulvi AY, Khalid LB, Javed I, Ghumman RZ, Colson C, Ibrahim S, Zia S, Khan MM, Brunelle P, Trujillo-Quintero JP, Ruiz A, Kirmani S, Houlden H, Toft M, Fatima A, Iqbal Z.   +17 more
europepmc   +1 more source

Adverse in-hospital outcomes in patients with paraplegia who undergo radical prostatectomy. [PDF]

BJU Int
Marmiroli A, Di Bello F, Peñaranda NR, Longoni M, Le QC, Falkenbach F, Nicolazzini M, Catanzaro C, Tian Z, Goyal JA, Luzzago S, Mistretta FA, Piccinelli M, Saad F, Shariat SF, Briganti A, Chun FKH, Micali S, Longo N, Graefen M, Palumbo C, Schiavina R, Musi G, Karakiewicz PI.   +23 more
europepmc   +1 more source

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance. [PDF]

Neurogenetics
Gillesse EH, Wan M, Ashtiani S, Suchowersky O, Parboosingh JS, Bernier FP, Lamont RE, Innes AM, Au PYB, Care4Rare Canada Consortium.   +9 more
europepmc   +1 more source

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

Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia. [PDF]

BMC Med Genomics
Yuan X, Zhang S, Tang Y.
europepmc   +1 more source

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. [PDF]

Ann Clin Transl Neurol
Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D.   +11 more
europepmc   +1 more source