Results 121 to 130 of about 3,973 (174)

Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study. [PDF]

J Child Neurol
Rummey C, Perlman S, Subramony SH, Corti M, Farmer J, Lynch DR.   +5 more
europepmc   +1 more source

Precision medicine and Friedreich ataxia: promoting equity, beneficence, and informed consent for novel gene therapies. [PDF]

Int J Equity Health
Kwa FAA, Kendal E.
europepmc   +1 more source

Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia. [PDF]

Am J Ophthalmol Case Rep
Gunawardene AN, Reyes N, Valdes-Arias D, Ortug A, Martinez J, Galor A, Moulton EA.   +6 more
europepmc   +1 more source

The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia. [PDF]

Cerebellum
Corben LA, Blomfield E, Tai G, Bilal H, Harding IH, Georgiou-Karistianis N, Delatycki MB, Vogel AP.   +7 more
europepmc   +1 more source

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. [PDF]

Ann Clin Transl Neurol
Shen MM, Rummey C, Lynch DR.
europepmc   +1 more source

Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia. [PDF]

Muscle Nerve
Cilenti NA, Tamaroff JG, Capiola CJ, Faig W, McBride MG, Paridon SM, O'Malley S, Edelson JB, Lynch DR, McCormack SE, Lin KY.   +10 more
europepmc   +1 more source

Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure. [PDF]

Neurol Clin Pract
Seabury J, Varma A, Weinstein J, Rosero SJ, Engebrecht C, Khosa S, Zizzi C, Wagner ES, Alexandrou D, Cohen BL, Dilek N, Heatwole JM, Lynch DR, Park CC, Wells M, Subramony SH, Heatwole CR.   +16 more
europepmc   +1 more source

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Friedreich's Ataxia

Archives of Otolaryngology - Head and Neck Surgery, 1981
To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
openaire   +2 more sources

Friedreich’s ataxia

Pediatric Neurology, 2003
Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
openaire   +2 more sources