Tessa A - Search Results

1

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: tessa a. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211

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

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C. Bruno C, et al. Among authors: tessa a. Muscle Nerve. 2003 Oct;28(4):508-11. doi: 10.1002/mus.10429. Muscle Nerve. 2003. PMID: 14506725

7

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

8

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

9

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

10

"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

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