Results 91 to 100 of about 7,267 (177)

Probing the Kinetic Stabilities of Friedreich’s Ataxia Clinical Variants Using a Solid Phase GroEL Chaperonin Capture Platform [PDF]

, 2014
Numerous human diseases are caused by protein folding defects where the protein may become more susceptible to degradation or aggregation. Aberrant protein folding can affect the kinetic stability of the proteins even if these proteins appear to be ...
Correia, Ana R., Fisher, Mark T., Gomes, Cláudio M., Naik, Subhashchandra   +3 more
core   +2 more sources

Friedreich’s Ataxia with Retained Reflexes

Pediatric Neurology Briefs, 1995
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
doaj   +1 more source

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy. [PDF]

, 2017
BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis.
Biagini, Biagini, Biagini, Biagini, Chan, Child, Dubrey, Elliott, Elliott, Gersh, Giunta, Harris, Lopes, Maron, Maron, McKenna, Ng, O'Mahony, Rapezzi, Rapezzi, Shah, Spirito, Thaman   +22 more
core   +2 more sources

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
doaj   +1 more source

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

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
doaj   +1 more source

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Nature Communications, 2020
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by ...
Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli   +19 more
doaj   +1 more source

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum [PDF]

, 2003
Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of ...
Dheyyat, M., Din, A., Hampshire, D., Jamil, A., Kurdi, A., Mubaidin, A., Mubaidin, M., Roberts, E., Shurbaji, A., Woods, C.G.   +9 more
core   +2 more sources

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients [PDF]

, 2016
BACKGROUND: The objective of this study was to evaluate whether the levels of coenzyme Q10 (CoQ10) in brain tissue of multiple system atrophy (MSA) patients differ from those in elderly controls and in patients with other neurodegenerative diseases ...
Bettencourt, C, Chalasani, A, Hargreaves, I, Holton, JL, Houlden, H, Kiely, AP, Neergheen, V, Schottlaender, LV   +7 more
core   +1 more source

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +1 more source