Santorelli FM - Search Results

1

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

D'Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. D'Amore A, et al. Among authors: santorelli fm. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589. doi: 10.1002/acn3.51018. Epub 2020 Mar 25. Ann Clin Transl Neurol. 2020. PMID: 32216065 Free PMC article.

2

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

3

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10862088

4

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.

Santorelli FM, Patrono C, Fortini D, Tessa A, Comanducci G, Bertini E, Pierallini A, Amabile GA, Casali C. Santorelli FM, et al. Neurology. 2000 Sep 12;55(5):702-5. doi: 10.1212/wnl.55.5.702. Neurology. 2000. PMID: 10980739

5

Abnormal H-Tfam in a patient harboring a single mtDNA deletion.

Tessa A, Manca ML, Mancuso M, Renna MR, Murri L, Martini B, Santorelli FM, Siciliano G. Tessa A, et al. Among authors: santorelli fm. Funct Neurol. 2000 Oct-Dec;15(4):211-4. Funct Neurol. 2000. PMID: 11213524

6

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: santorelli fm. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

7

Respiratory chain defects in hereditary spastic paraplegias.

Piemonte F, Casali C, Carrozzo R, Schägger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM. Piemonte F, et al. Among authors: santorelli fm. Neuromuscul Disord. 2001 Sep;11(6-7):565-9. doi: 10.1016/s0960-8966(01)00214-0. Neuromuscul Disord. 2001. PMID: 11525886

8

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM. Patrono C, et al. Among authors: santorelli fm. J Neurol. 2002 Feb;249(2):200-5. doi: 10.1007/pl00007865. J Neurol. 2002. PMID: 11985387

9

SPG3A: An additional family carrying a new atlastin mutation.

Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98. Neurology. 2002. PMID: 12499504

10

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation.

Cupini LM, Massa R, Floris R, Manenti G, Martini B, Tessa A, Nappi G, Bernardi G, Santorelli FM. Cupini LM, et al. Among authors: santorelli fm. Neurology. 2003 Feb 25;60(4):717-9. doi: 10.1212/01.wnl.0000048662.77572.fb. Neurology. 2003. PMID: 12601121

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