Results 101 to 110 of about 4,540 (202)

Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography [PDF]

, 1990
Local cerebral metabolic rate for glucose was studied with 18 F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 22 patients with Friedreich's ataxia and 23 age-matched normal control subjects.
Gilman, Sid, Kluin, Karen J., Junck, Larry, Koeppe, Robert A., Markel, Dorene S.   +4 more
core   +1 more source

Determinant of the cerebellar cognitive affective syndrome in Friedreich's ataxia.

, 2023
Individuals with Friedreich's ataxia (FRDA) display significantly lower performances in many cognitive domains with a pattern of impairment that falls within the cerebellar cognitive affective syndrome (CCAS).SCOPUS: ar.jinfo:eu-repo/semantics ...
Destrebecq, Virginie, Naeije, Gilles, Comet, Camille, Alaerts, Nick, Deveylder, F   +4 more
core   +1 more source

Insulin-dependent diabetes mellitus and Friedreich's ataxia in siblings

, 1970
Two female siblings with Friedreich's ataxia became acutely diabetic at ages 15 and 21 years, requiring insulin therapy for the duration of their lives.
Sheremata, William A, Podolsky, Stephen   +1 more
core   +1 more source

Friedreich's ataxia presenting as adult-onset spastic paraparesis

, 1998
Friedreich's ataxia presenting as adult-onset spastic ...
Damien Paris (19465870), Susan M Forrest (19465873), Peter Gates (13089159), Robert Williamson (2467888), RJ McKinlay Gardner (19465876)   +4 more
core   +2 more sources

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
doaj   +1 more source

Visual involvement in Friedreich's ataxia and hereditary spastic ataxia

, 1981
Visual involvement was assessed in 21 patients with Friedreich's ataxia and in 17 patients with spastic ataxia by neuro-ophthalmic examination and by recording visual evoked responses (VERs).
Mastaglia, F.L., Livingstone, I.R., Howe, J.W., Edis, R.   +3 more
core  

Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment

, 2008
Background Friedreich ataxia is a neurological disease originating from an iron-sulfur cluster enzyme deficiency due to impaired iron handling in the mitochondrion, aconitase being particularly affected.
Paupe, Vincent, Sergio Goncalves, Vincent Paupe, Rustin, Pierre, Dassa Emmanuel P, Rustin Pierre, Paupe Vincent, Pierre Rustin, Dassa, Emmanuel,, Goncalves Sergio, Dassa, Emmanuel, P., Emmanuel P Dassa, Goncalves, Sergio   +12 more
core   +1 more source

Friedreich ataxia [PDF]

BMJ, 2013
Peter, Gibilisco, Adam P, Vogel
openaire   +2 more sources

Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis

Antioxidants, 2014
A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
doaj   +1 more source

Diazoxide for the treatment of Friedreich's Ataxia

, 2014
A pharmaceutical preparation treats Friedreich's ataxia and treats or prevents pathologies related thereto. In particular, the pharmaceutical preparation concerns the use of diazoxide or 7-chloro-3-methyl-4H-1,2,4 benzothiadiazine 1,1-dioxide, in ...
PALMIERI, Luigi, PALMIERI, Ferdinando, MAROBBIO, CARLO MARYA, SANTORO, ANTONELLA   +3 more
core