Santorelli FM - Search Results

1

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Ticci C, et al. Among authors: santorelli fm. Neurogenetics. 2020 Apr;21(2):87-96. doi: 10.1007/s10048-019-00601-5. Epub 2020 Jan 3. Neurogenetics. 2020. PMID: 31900734

2

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

3

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E. Santorelli FM, et al. G Ital Cardiol. 1999 Oct;29(10):1181-3. G Ital Cardiol. 1999. PMID: 10546130 Italian. No abstract available.

4

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

5

Multiple mtDNA deletions: clinical and molecular correlations.

Santorelli FM, De Joanna G, Casali C, Tessa A, Siciliano G, Amabile GA, Pierelli F, Vilarinho L, Santoro L. Santorelli FM, et al. J Inherit Metab Dis. 2000 Mar;23(2):155-61. doi: 10.1023/a:1005617916260. J Inherit Metab Dis. 2000. PMID: 10801057

6

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

7

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM. Giannotti A, et al. Among authors: santorelli fm. Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10980549 No abstract available.

8

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

9

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

10

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM. Salvi S, et al. Among authors: santorelli fm. Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1221. Hum Mutat. 2001. PMID: 11668643

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