نتایج جستجو برای: friedreich

تعداد نتایج: 2912  

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2021

Journal: :Archives of Cardiovascular Diseases Supplements 2015

Journal: :Vojnosanitetski Pregled 2023

Introduction. Friedreich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects trunk, with swaying, imbalance, and falls, well limbs, increasing difficulty in activities of daily living. Physical therapy has been recognized a means managing physical symptoms maximizing function affected persons. To our knowledge, there are no studies that ha...

2013
Zvi Ioav Cabantchik Arnold Munnich Moussa B. Youdim David Devos

The traditional role of iron chelation therapy has been to reduce body iron burden via chelation of excess metal from organs and fluids and its excretion via biliary-fecal and/or urinary routes. In their present use for hemosiderosis, chelation regimens might not be suitable for treating disorders of iron maldistribution, as those are characterized by toxic islands of siderosis appearing in a b...

Journal: :Cytometry. Part A : the journal of the International Society for Analytical Cytology 2008
Paola Porcedda Valentina Turinetto Alfredo Brusco Simona Cavalieri Erica Lantelme Luca Orlando Umberto Ricardi Antonio Amoroso Dario Gregori Claudia Giachino

Ataxia telangiectasia (A-T) is a progressive neurodegenerative disease with onset in early childhood, caused by mutations in the ATM (ataxia-telangiectasia mutated) gene. Diagnosis relies on laboratory tests showing high levels of serum alphafetoprotein, cell sensitivity to ionizing radiation (IR) and absence or reduced levels of ATM protein. Many tests, however, are not sufficiently sensitive ...

2016
Maya Patel Charles J. Isaacs Lauren Seyer Karlla Brigatti Sarah Gelbard Cassandra Strawser Debbie Foerster Julianna Shinnick Kimberly Schadt Eppie M. Yiu Martin B. Delatycki Susan Perlman George R. Wilmot Theresa Zesiewicz Katherine Mathews Christopher M. Gomez Grace Yoon Sub H. Subramony Alicia Brocht Jennifer Farmer David R. Lynch

OBJECTIVE Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder of adults and children. This study analyzed neurological outcomes and changes to identify predictors of progression and generate power calculations for clinical trials. METHODS Eight hundred and twelve subjects in a natural history study were evaluated annually across 12 sites using the Friedreich Ataxia Rating Sca...

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