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

607 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: santorelli fm. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 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.
A novel mutation in SACS gene in a family from southern Italy.
Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A. Criscuolo C, et al. Among authors: santorelli fm. Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100. Neurology. 2004. PMID: 14718706 Free article.
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, Carella M, Martini B, Rossi A, Amabile GA, Nappi G, Filla A, Dallapiccola B, Santorelli FM. Casali C, et al. Among authors: santorelli fm. Neurology. 2004 Jan 27;62(2):262-8. doi: 10.1212/wnl.62.2.262. Neurology. 2004. PMID: 14745065
607 results