Tessa A - Search Results

1

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Cioffi E, Coppola G, Musumeci O, Gallone S, Silvestri G, Rossi S, Piemonte F, D'Amico J, Tessa A, Santorelli FM, Casali C. Cioffi E, et al. Among authors: tessa a. Neurogenetics. 2024 Apr;25(2):51-67. doi: 10.1007/s10048-024-00749-9. Epub 2024 Feb 9. Neurogenetics. 2024. PMID: 38334933 Free PMC article. Review.

2

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: tessa a. J Neurol. 2002 Feb;249(2):200-5. doi: 10.1007/pl00007865. J Neurol. 2002. PMID: 11985387

3

Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy.

Siciliano G, Monzani F, Manca ML, Tessa A, Caraccio N, Tozzi G, Piemonte F, Mancuso M, Santorelli FM, Ferrannini E, Murri L. Siciliano G, et al. Among authors: tessa a. Mol Med. 2002 Jun;8(6):326-33. Mol Med. 2002. PMID: 12428064 Free PMC article.

4

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

Tessa A, Salvi S, Casali C, Garavelli L, Digilio MC, Dotti MT, Di Giandomenico S, Valoppi M, Grieco GS, Comanducci G, Bianchini G, Fortini D, Federico A, Giannotti A, Santorelli FM. Tessa A, et al. Hum Mutat. 2003 Jul;22(1):104. doi: 10.1002/humu.9155. Hum Mutat. 2003. PMID: 12815605

5

The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia.

Siciliano G, Pasquali L, Manca ML, Del Corona A, Tessa A, Patrono C, Prontera C, Zucchelli G, Santorelli FM. Siciliano G, et al. Among authors: tessa a. Funct Neurol. 2003 Apr-Jun;18(2):83-7. Funct Neurol. 2003. PMID: 12911138 Clinical Trial.

6

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, Tessa A, Santorelli FM, Perretti A, Santoro L, Filla A. Scarano V, et al. Among authors: tessa a. J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742100

7

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Lucioli S, Hoffmeier K, Carrozzo R, Tessa A, Ludwig B, Santorelli FM. Lucioli S, et al. Among authors: tessa a. Neurogenetics. 2006 Mar;7(1):51-7. doi: 10.1007/s10048-005-0015-z. Epub 2005 Nov 12. Neurogenetics. 2006. PMID: 16284789

8

"Bartter-like" phenotype in Kearns-Sayre syndrome.

Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G. Emma F, et al. Among authors: tessa a. Pediatr Nephrol. 2006 Mar;21(3):355-60. doi: 10.1007/s00467-005-2092-5. Epub 2005 Dec 29. Pediatr Nephrol. 2006. PMID: 16382326

9

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: tessa a. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

10

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Stevanin G, et al. Among authors: tessa a. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13. Neurogenetics. 2006. PMID: 16699786

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