Results 221 to 230 of about 90,019 (314)

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

, 2019
Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabeth D. Buttermore, Lee Barrett, Sean Dwyer, Teresa C. Chen, Jennifer Hirst, Antje Wiesener, Devorah Segal, Andrea Martinuzzi, Sofia Duarte, James T. Bennett, Thomas Bourinaris, Henry Houlden, Agathe Roubertie, Filippo M. Santorelli, Margaret S. Robinson, Mimoun Azzouz, Jonathan O. Lipton, Georg H. H. Borner, Mustafa Şahin, Darius Ebrahimi‐Fakhari   +28 more
openalex   +2 more sources

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

Paraplegia as an initial manifestation of pancreatic cancer

JGH Open, 2019
Makoto Sono, Akihisa Fukuda, Hiroshi Seno, Shujiro Yazumi   +3 more
doaj   +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

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

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

Iodide of Potassium in Potts' Paraplegia.

, 1893
Samuel E Milliken
openalex   +1 more source

3T MR diffusion tensor in hereditary spastic paraplegia

, 2011
Alessandro Meschini
openalex   +1 more source