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194 results

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Page 1
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: tessa a. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791
MtDNA-related idiopathic dilated cardiomyopathy.
Tessa A, Vilarinho L, Casali C, Santorelli FM. Tessa A, et al. Eur J Hum Genet. 1999 Dec;7(8):847-8. doi: 10.1038/sj.ejhg.5200380. Eur J Hum Genet. 1999. PMID: 10602359 No abstract available.
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: tessa a. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414
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. Among authors: tessa a. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522
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. Among authors: tessa a. J Inherit Metab Dis. 2000 Mar;23(2):155-61. doi: 10.1023/a:1005617916260. J Inherit Metab Dis. 2000. PMID: 10801057
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: tessa a. 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.
194 results