Tessa A - Search Results

1

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L. Nicita F, et al. Among authors: tessa a. J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13. J Neurol. 2019. PMID: 31302745

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 melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.

Petrini S, Tessa A, Carrozzo R, Verardo M, Pierini R, Rizza T, Bertini E. Petrini S, et al. Among authors: tessa a. Mol Cell Neurosci. 2003 Jun;23(2):219-31. doi: 10.1016/s1044-7431(03)00033-2. Mol Cell Neurosci. 2003. PMID: 12812755

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

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Melone MA, et al. Among authors: tessa a. Arch Neurol. 2004 Feb;61(2):269-72. doi: 10.1001/archneur.61.2.269. Arch Neurol. 2004. PMID: 14967777

7

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

8

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

9

"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

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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