Results 111 to 120 of about 4,540 (202)

Structural and funcitonal MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia

, 2015
Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias. Different patterns of atrophy of the cerebellar cortex are well known. Data on cerebellar nuclei are sparse.
Schlamann, M., Diedrichsen, J., Maderwald, S., Stefanescu, M. R., Ladd, M. E., Beck, A., Minnerop, Martina, Timmann, D., Dohnalek, M., Thürling, M.   +9 more
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Phonological markers of sentence stress in ataxic dysarthria and their relationship to perceptual cues

, 2014
A wide range of literature is available on the features of ataxic dysarthria, investigating segmental and prosodic characteristics by acoustic and perceptual means.
Lowit, Anja, Kavanagh, Kimberley, Kuschmann, Anja   +2 more
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Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism

Nature Communications, 2019
The iron-sulfur cluster (ISC) assembly complex is activated by frataxin (FXN) and Friedreich’s ataxia is caused by FXN deficiency. Here the authors present the 3.2 Å resolution cryo-EM structure of the human frataxin bound ISC complex and discuss how FXN
Nicholas G. Fox, Xiaodi Yu, Xidong Feng, Henry J. Bailey, Alain Martelli, Joseph F. Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W. Yue, Seungil Han   +9 more
doaj   +1 more source

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +1 more source

Friedreich's ataxia: a clinical review of 20 childhood cases

, 1988
— The authors report the clinical review of 20 childhood cases with Friedreich's ataxia. The mean age at onset of symptoms was 6.1 years. The main presenting symptom was abnormal gait (100%).
Özeren A., Üikü A., Araç N.
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Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

, 2019
BACKGROUND: Friedreich's ataxia is an autosomal-recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress.
Malisan F., Pedini G., Mannucci L., Toschi N., Alaimo G., Fortuni S., Testi R., Luffarelli R., Massaro D. S., Condo I., Rufini A., Pacini L., Panarello L., Benini M., Alfedi G., Serio D.   +15 more
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Friedreich’s Ataxia-A Case Report

Journal of Rawalpindi Medical College, 2018
Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha, Saman Saleem, Sana Qurban, Mawra Noor   +3 more
doaj  

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia

, 2018
Mitochondrial homeostasis is essential for maintaining healthy cellular function and survival. The detrimental involvement of mitochondrial dysfunction in neuro-degenerative diseases has recently been highlighted in human conditions, such as Parkinson's,
Shannon Chiang, Huang, Michael L-H, Michael L.-H. Huang, Chiang, Shannon, Patric J. Jansson, Richardson, Des R, Danuta S. Kalinowski, Jansson, Patric J, Des R. Richardson, Kalinowski, Danuta S   +9 more
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Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia

, 2016
The mitochondrion is a major site for the metabolism of the transition metal, iron, which is necessary for metabolic processes critical for cell vitality. The enigmatic mitochondrial protein, frataxin, is known to play a significant role in both cellular
Sahni, Sumit, Lane, Darius JR, Huang, Michael L-H, Chiang, Shannon, Kovacevic, Zaklina, Richardson, Des R, Merlot, Angelica M, Kalinowski, Danuta S   +7 more
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Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.

, 2002
A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities.
Pandolfo, Massimo, Beinlich, Brad R, Harding, Cary O, Salamat, M Shahriar, Gallagher, Catherine L, Pauli, Richard M, Poirer, Josée, Waclawik, Andrew J   +7 more
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