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314 results

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Page 1
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.
Scala M, Anijs M, Battini R, Madia F, Capra V, Scudieri P, Verrotti A, Zara F, Minetti C, Vernes SC, Striano P. Scala M, et al. Among authors: battini r. Ital J Pediatr. 2021 Oct 12;47(1):208. doi: 10.1186/s13052-021-01162-w. Ital J Pediatr. 2021. PMID: 34641913 Free PMC article.
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V. Savarese M, et al. Among authors: battini r. Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. Neuromuscul Disord. 2016. PMID: 27017278 Free PMC article.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Among authors: battini r. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Among authors: battini r. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM. Ticci C, et al. Among authors: battini r. J Clin Med. 2021 May 12;10(10):2063. doi: 10.3390/jcm10102063. J Clin Med. 2021. PMID: 34065803 Free PMC article.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Orsini A, et al. Among authors: battini r. Genes (Basel). 2022 Jan 30;13(2):276. doi: 10.3390/genes13020276. Genes (Basel). 2022. PMID: 35205321 Free PMC article.
De novo GRIN2A variants associated with epilepsy and autism and literature review.
Mangano GD, Riva A, Fontana A, Salpietro V, Mangano GR, Nobile G, Orsini A, Iacomino M, Battini R, Astrea G, Striano P, Nardello R. Mangano GD, et al. Among authors: battini r. Epilepsy Behav. 2022 Apr;129:108604. doi: 10.1016/j.yebeh.2022.108604. Epub 2022 Feb 23. Epilepsy Behav. 2022. PMID: 35217385 Review.
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.
Santangelo A, Bartolini E, Nuzzi G, Foiadelli T, Michev A, Mina T, Trambusti I, Fichera V, Bonuccelli A, Massimetti G, Peroni DG, De Marco E, Coccoli L, Luti L, Bernasconi S, Nardi M, Menconi MC, Casazza G, Pruna D, Mura R, Marra C, Zama D, Striano P, Cordelli DM, Battini R, Orsini A. Santangelo A, et al. Among authors: battini r. Front Neurol. 2022 Jun 10;13:920214. doi: 10.3389/fneur.2022.920214. eCollection 2022. Front Neurol. 2022. PMID: 35756920 Free PMC article.
314 results