Results 41 to 50 of about 7,267 (177)

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

HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Cisplatin and oxaliplatin cause the secretion of high mobility group box 1 (HMGB1) protein from cancer cells, which is necessary for initiation of immunogenic cell death (ICD). Calreticulin (CRT) translocation from the endoplasmic reticulum to the plasma
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia

Case Reports in Neurological Medicine, 2016
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
Michael Bonello, Partha Ray
doaj   +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

Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells.

PLoS ONE, 2013
Many neurodegenerative disorders share a common susceptibility to oxidative stress, including Alzheimer's, Parkinson Disease, Huntington Disease and Friedreich's ataxia.
Jonathan Jones, Alicia Estirado, Carolina Redondo, Salvador Martinez, Salvador Martinez   +4 more
doaj   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, 2022
The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
doaj   +1 more source

P53 binds preferentially to non-B DNA structures formed by the pyrimidine-rich strands of GaA·TTC trinucleotide repeats associated with Friedreich’s ataxia [PDF]

, 2019
Expansions of trinucleotide repeats (TNRs) are associated with genetic disorders such as Friedreich’s ataxia. The tumor suppressor p53 is a central regulator of cell fate in response to different types of insults.
Adámik, Matej, Bažantová, Pavla, Bowater, Richard P., Brázdová, Marie, Fojta, Miroslav, Helma, Robert, Pastuchová, Alena, Petr, Marek, Pečinka, Petr, Renčiuk, Daniel, Soldánová, Zuzana, Tichý, Vlastimil   +11 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review

Arquivos Brasileiros de Cardiologia, 2002
OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide ...
Lilian Maria José Albano, Silvana Angelina Dório Nishioka, Regina Lucia Moysés, Jaqueline Wagenführ, Débora Bertola, Sofia Mizuho Miura Sugayama, A. Kim Chong   +6 more
doaj   +1 more source

Huntington's disease phenocopies are clinically and genetically heterogeneous [PDF]

, 2008
Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable.
Beck, J, Bhatia, KP, Davis, MB, Mudanohwo, EE, Rossor, MN, Schneider, SA, Sweeney, MG, Tabrizi, SJ, Wild, EJ   +8 more
core   +1 more source