Results 31 to 40 of about 5,571 (197)

Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]

, 2016
The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique, Gonzalez-Lebrero, Rodolfo Martin, Roman, Ernesto Andres, Santos, Javier   +3 more
core   +1 more source

Resúmenes de los trabajos sobre la atrofia espinocerebelosa

Medisur, 2010
Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las ...
Congreso Nacional de Neurolog'ia
doaj   +2 more sources

The mutational dynamics of short tandem repeats in large, multigenerational families

Genome Biology, 2022
Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome ...
Cody J. Steely, W. Scott Watkins, Lisa Baird, Lynn B. Jorde   +3 more
doaj   +1 more source

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

Claves para afrontar el reto diagnóstico de las heredoataxias recesivas

Neurología, 2019
Resumen: Introducción: Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en muchos casos también se afectan otras partes del sistema nervioso.
M. Arias
doaj   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Chiranjeevi eSandi, Chiranjeevi eSandi, Madhavi eSandi, Mark Adrian Pook, Sahar eAl-Mahdawi, Sara eAnjomani-Virmouni   +5 more
core   +2 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source