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Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F, Garau J, Orcesi S, Varesio C, Bordoni M, Scarian E, Di Gerlando R, Fazzi E, Battini R, Gjurgjaj A, Rizzo B, Pansarasa O, Gagliardi S. Dragoni F, et al. Among authors: orcesi s. Front Endocrinol (Lausanne). 2023 Mar 14;14:1152237. doi: 10.3389/fendo.2023.1152237. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36998476 Free PMC article.
Response to carbamazepine of recessive-type myotonia congenita.
Berardinelli A, Gorni K, Orcesi S. Berardinelli A, et al. Among authors: orcesi s. Muscle Nerve. 2000 Jan;23(1):138-9. doi: 10.1002/(sici)1097-4598(200001)23:1<138::aid-mus23>3.0.co;2-4. Muscle Nerve. 2000. PMID: 10590422 No abstract available.
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Among authors: orcesi s. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Brun L, et al. Among authors: orcesi s. Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Neurology. 2010. PMID: 20505134
New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. Cagliani R, et al. Among authors: orcesi s. J Neurol Sci. 2011 Jan 15;300(1-2):107-13. doi: 10.1016/j.jns.2010.09.011. J Neurol Sci. 2011. PMID: 20937510
159 results