Results 91 to 100 of about 4,355 (175)

Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report

Radiology Case Reports
Friedreich's ataxia (FRDA) is a neurodegenerative disease characterized by progressive ataxia, dysarthria, sensory loss. While neurological symptoms are prominent, cardiac manifestations significantly contribute to mortality. Cardiomyopathy in Friedreich'
Yasmine Ouaddouh, MD, Salma Bouyaddid, MD, Zakaria Bazid, MD, PhD, Nabila Ismaili, MD, PhD, Noha El Ouafi, MD, PhD   +4 more
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An exploration of the lived experience of progressive cerebellar Ataxia: An interpretative phenomenological analysis [PDF]

, 2012
This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel UniversityBackground and Purpose: Progressive cerebellar ataxia is a rare neurological condition characterised by uncoordinated movement, and impaired speech ...
Cassidy, Elizabeth Emma
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Friedreich's Ataxia and Glucose Metabolism

Pediatric Neurology Briefs, 1988
Glucose metabolism was investigated in 21 patients with FA at the Instituto Neurogico, Cattedra di Clinica Medica, Milan, Italy.
J Gordon Millichap
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Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?

, 2017
Objective: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich’s ataxia. Design: Randomized, delayed-start control single-blind trial.
Louise A Corben, Martin B Delatycki, Melissa Roberts, Geneieve Tai, Sarah C Milne, Anna Murphy, Eppie M Yiu, Nellie Georgiou-Karistianis   +7 more
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Oral mobility reflects rate of progression in advanced Friedreich’s ataxia

, 2019
International audienceOur objective was to identify a sensitive marker of disease progression in Friedreich’s ataxia. We prospectively evaluated speech, voice, and oromotor function in 40 patients at two timepoints. The mean disease duration was 20.8 ± 9.
Didier Bouccara, Marie‐Lorraine Monin, Borel, Stéphanie, Alexandra Durr, Bouccara, Didier, Claire Ewenczyk, Ewenczyk, Claire, Smail, Mustapha, Peggy Gatignol, Stéphanie Borel, Durr, Alexandra, Mustapha Smail, Gatignol, Peggy, Monin, Marie-Lorraine   +13 more
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Serum lipids, lipoprotein analysis and apoprotein A-I, A-II and B levels in friedreich’s ataxia

, 1990
Serum lipid, lipoprotein and apoprotein parameters were evaluated in 15 patients (7 males and 8 females) with Friedreich’s ataxia. Serum lipid levels in patients showed no significant differences compared to controls.
Vitale E., Angelini C., Baldo-Enzi G., Bernardo M., Crepaldi G., Micaglio G. F., Trevisani C., Fellin R., Baiocchi M. R.   +8 more
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Typical Friedreich’s Ataxia without GAA Expansions and GAA Epansions Wthout Typical Friedreich’s Ataxia

, 2000
We clinically assessed and performed polymerase chain reaction analysis for the GAA trinucleotide repeat expansion in 103 patients from 73 families in Ireland, with a prior clinical diagnosis of Friedreich’s ataxia (FA) or an unclassified progressive ...
Ryan, Fergus, McQuaid, Shirley, Daly, K., Murphy, R., McCabe, Dominick, King, M., Moore, D., Barton, David, Kelly, A.   +8 more
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Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
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Friedreich's Ataxia – A Clinical Diagnosis [PDF]

Journal of Krishna Institute of Medical Sciences University, 2015
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam , Devdeep Mukherjee, Ritabrata Kundu , Joydeep Das   +3 more
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Determination of genotypic and phenotypic characteristics of Friedreich’s ataxia and autosomal dominant spinocerebellar ataxia types 1, 2, 3, and 6

, 2016
Introduction: This study aimed to analyze the genotypic characteristics of Friedreich’s ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar
Güzel A.İ., Koç F., Boz P.B., Kocatürk Sel S., Kasap H.   +4 more
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