Results 61 to 70 of about 343,330 (314)

SPORADIC CRETINISM.

The Lancet, 1897
n ...
openaire   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Motor Neurone Disease (MND/ALS) among Maltese in Malta and Australia : many sporadic cases were related [PDF]

, 2014
Objective: to look for genetic links between cases of MND. Method: to search for ancestors of Maltese cases dying in Malta and Australia and to record dispensations for consanguineous marriages.
Wyatt, H. V.
core  

The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer

, 2002
Background: In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene.
Liu, Y, Phillippa Dodds, Charnock, FML, Dodds, P, Dunham Ian, Liu Ying, Wells R Spencer, Gracy Emilion, Ganesan Trivadi S, Beck, Stephan, Charnock, F Mark L, Emilion, G, Stephan Beck, Mungall, Andrew J, Ian Dunham, F Mark L Charnock, Wells, RS, Ganesan, TS, Emilion, Gracy, Dunham, I, Dodds Phillippa, Beck Stephan, Emilion Gracy, Wells, R Spencer, Dunham, Ian, Mungall Andrew J, Andrew J Mungall, Ying Liu, R Spencer Wells, Beck, S, Liu, Ying, Mungall, AJ, Trivadi S Ganesan, Charnock F Mark L, Dodds, Phillippa, Ganesan, Trivadi S   +35 more
core   +1 more source

Sporadic giant renal angiomyolipoma: A case report and literature review of clinical presentation, diagnosis, and treatment options

Urology Annals, 2020
Giant angiomyolipoma (AML) is uncommon benign renal neoplasm that occurs sporadic or in association with tuberous sclerosis syndrome. There is no specific cutoff tumor size and/or weight to define giant AMLs.
Mohammed Alshehri, Basel Hakami, Nasser Aljameel, Mohammad Alayyaf, Ali Abdel Raheem   +4 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Effects of drinking-water filtration on Cryptosporidium Seroepidemiology, Scotland [PDF]

, 2014
Continuous exposure to low levels of Cryptosporidium oocysts is associated with production of protective antibodies. We investigated prevalence of antibodies against the 27-kDa Cryptosporidium oocyst antigen among blood donors in 2 areas of Scotland ...
Huw V. Smith, Pollock, Kevin G.J., Adam P. Wagner, Kevin G.J. Pollock, Pollock, Kevin G. J., Ramsay, Colin N., Robertson, Chris, Smith, Huw V., Chris Robertson, Smith, Huw W., Wagner, Adam P., Colin N. Ramsay   +11 more
core   +1 more source

Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?

The Application of Clinical Genetics, 2022
Werasak Sasanakul, Ampaiwan Chuansumrit, Nongnuch Sirachainan, Praguywan Kadegasem Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCorrespondence: Ampaiwan Chuansumrit, Department of Pediatrics ...
Sasanakul W, Chuansumrit A, Sirachainan N, Kadegasem P   +3 more
doaj  

Copper-ATSM as a Treatment for ALS: Support from Mutant SOD1 Models and Beyond

Life, 2020
The blood–brain barrier permeant, copper-containing compound, CuII(atsm), has successfully progressed from fundamental research outcomes in the laboratory through to phase 2/3 clinical assessment in patients with the highly aggressive and fatal ...
Sara Nikseresht, James B.W. Hilton, Kai Kysenius, Jeffrey R. Liddell, Peter J. Crouch   +4 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source