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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

638 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: santorelli fm. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707
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.
A novel mtDNA point mutation in maternally inherited cardiomyopathy.
Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S. Casali C, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 1995 Aug 15;213(2):588-93. doi: 10.1006/bbrc.1995.2172. Biochem Biophys Res Commun. 1995. PMID: 7646516
Mitochondrial myopathy mimicking fibromyalgia syndrome.
Villanova M, Selvi E, Malandrini A, Casali C, Santorelli FM, De Stefano R, Marcolongo R. Villanova M, et al. Among authors: santorelli fm. Muscle Nerve. 1999 Feb;22(2):289-91. doi: 10.1002/(sici)1097-4598(199902)22:2<289::aid-mus26>3.0.co;2-o. Muscle Nerve. 1999. PMID: 10024147 No abstract available.
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.
638 results