Pisciotta L - Search Results

1

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.

Uccella S, Pisciotta L, Severino M, Bertini E, Giacomini T, Zanni G, Prato G, De Grandis E, Nobili L, Mancardi MM. Uccella S, et al. Among authors: pisciotta l. Epileptic Disord. 2021 Feb 1;23(1):153-160. doi: 10.1684/epd.2021.1243. Epileptic Disord. 2021. PMID: 33622667 Review.

2

Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.

Larrey D, D'Erasmo L, O'Brien S, Arca M; Italian Working Group on Lomitapide. Larrey D, et al. Liver Int. 2023 Feb;43(2):413-423. doi: 10.1111/liv.15497. Epub 2022 Dec 30. Liver Int. 2023. PMID: 36520008 Free PMC article. Clinical Trial.

3

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Camia F, Pisciotta L, Morana G, Schiaffino MC, Renna S, Carrera P, Ferrari M, Baglietto MG, Veneselli E, Siri L, Mancardi MM. Camia F, et al. Among authors: pisciotta l. Cephalalgia. 2017 Oct;37(12):1202-1206. doi: 10.1177/0333102416668655. Epub 2016 Sep 19. Cephalalgia. 2017. PMID: 27651281

4

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.

Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR, Veneselli E; I.B.AHC Consortium; De Grandis E. Pisciotta L, et al. Brain Dev. 2017 Jun;39(6):521-528. doi: 10.1016/j.braindev.2017.02.001. Epub 2017 Feb 27. Brain Dev. 2017. PMID: 28249736

5

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E. Stagnaro M, et al. Among authors: pisciotta l. Eur J Paediatr Neurol. 2018 Mar;22(2):264-271. doi: 10.1016/j.ejpn.2018.01.010. Epub 2018 Jan 31. Eur J Paediatr Neurol. 2018. PMID: 29396171

6

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Pisciotta L, et al. Neuropediatrics. 2018 Jun;49(3):217-221. doi: 10.1055/s-0038-1639372. Epub 2018 Apr 9. Neuropediatrics. 2018. PMID: 29631299

7

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A, Scala M, Calcagno A, Napoli F, Di Iorgi N, Arrigo S, Mancardi MM, Prato G, Pisciotta L, Nagel M, Severino M, Capra V. Accogli A, et al. Among authors: pisciotta l. Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30026055

8

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Ghosh SG, et al. Among authors: pisciotta l. Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Am J Hum Genet. 2018. PMID: 30100084 Free PMC article.

9

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Rosti G, Tassano E, Bossi S, Divizia MT, Ronchetto P, Servetti M, Lerone M, Pisciotta L, Mancardi MM, Veneselli E, Puliti A. Rosti G, et al. Among authors: pisciotta l. Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359776

10

Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome.

Lenci G, Calevo MG, Gaggero R, Prato G, Pisciotta L, De Grandis E, Mancardi MM, Baglietto MG, Vigano' M, Veneselli E. Lenci G, et al. Among authors: pisciotta l. Brain Dev. 2019 Jun;41(6):522-530. doi: 10.1016/j.braindev.2019.02.004. Epub 2019 Feb 20. Brain Dev. 2019. PMID: 30797668

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