Results 61 to 70 of about 4,103 (182)
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia
Annals of Clinical and Translational Neurology, 2020 Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS).
Gilles Naeije +5 more
doaj +1 more source
The FEBS Journal, EarlyView.Human frataxin deficiency causes Friedreich's ataxia, yet how iron‐binding events are communicated across the protein is unclear. Using transfer entropy analysis of molecular dynamics simulations, we identify buried hydrophobic core leucines (LEU136, LEU140) as the source of directional signaling toward the iron‐binding acidic ridge.
Kevser Kübra Kırboğa +1 more
wiley +1 more source
Genetics and Friedreich Ataxia
Pediatric Neurology Briefs, 2002 The effects of genetic understanding on clinical evaluation and therapy of Friedreich ataxia (FRDA) are reviewed from the University of Pennsylvania School of Medicine, Philadelphia.
J Gordon Millichap
doaj +1 more source
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
Journal of Child Neurology, 2012 Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications.
openaire +3 more sources
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1733-1735, August 2026.ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman +5 more
wiley +1 more source
ATAXIA DE FRIEDREICH: RELATO DE UM CASO COM MANIFESTAÇÃO TARDIA
Arquivos de Ciências da Saúde da UNIPAR, 2011 A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863.
Daniela Carvalho Cardozo +1 more
doaj
Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.Abstract INTRODUCTION Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal phase of Lewy body diseases and linked to a high risk for cognitive decline. Therefore, iRBD provides a suitable window for early intervention. METHODS In the monocentric randomized controlled trial “Cognitive Training & a Healthy, Active Lifestyle ...
Anja Ophey +18 more
wiley +1 more source
Autosomal recessive cerebellar ataxias
Orphanet Journal of Rare Diseases, 2006 Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal ...
Palau Francesc, Espinós Carmen
doaj +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source