Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

608 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Among authors: santorelli fm. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
Late onset recessive ataxia with Friedreich's disease phenotype.
De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G. De Michele G, et al. J Neurol Neurosurg Psychiatry. 1989 Dec;52(12):1398-401. doi: 10.1136/jnnp.52.12.1398. J Neurol Neurosurg Psychiatry. 1989. PMID: 2614435 Free PMC article.
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: santorelli fm. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.
Chronic diarrhea associated with the A3243G mtDNA mutation.
Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Santorelli FM, et al. Neurology. 2000 Jan 11;54(1):266-7. doi: 10.1212/wnl.54.1.266. Neurology. 2000. PMID: 10636171 No abstract available.
608 results