Moro F - Search Results

1

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

Battini R, Chilosi AM, Casarano M, Moro F, Comparini A, Alessandrì MG, Leuzzi V, Tosetti M, Cioni G. Battini R, et al. Among authors: moro f. Mol Genet Metab. 2011 Feb;102(2):153-6. doi: 10.1016/j.ymgme.2010.11.005. Epub 2010 Nov 13. Mol Genet Metab. 2011. PMID: 21144783

2

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. Among authors: moro f. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043. J Pediatr. 2006. PMID: 16769397

3

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Fiorillo C, Moro F, Astrea G, Morales MA, Baldacci J, Marchese M, Scapolan S, Bruno C, Battini R, Santorelli FM. Fiorillo C, et al. Among authors: moro f. Neuromuscul Disord. 2013 Dec;23(12):1010-5. doi: 10.1016/j.nmd.2013.09.010. Epub 2013 Oct 1. Neuromuscul Disord. 2013. PMID: 24144914

4

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M, Sartori S, Simonati A, Brinciotti M, Moro F, Nosadini M, Pezzini F, Doccini S, Santorelli FM, Leuzzi V. Mastrangelo M, et al. Among authors: moro f. Eur J Med Genet. 2019 Dec;62(12):103591. doi: 10.1016/j.ejmg.2018.11.025. Epub 2018 Nov 27. Eur J Med Genet. 2019. PMID: 30500434

5

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Fiorillo C, Moro F, Yi J, Weil S, Brisca G, Astrea G, Severino M, Romano A, Battini R, Rossi A, Minetti C, Bruno C, Santorelli FM, Vallee R. Fiorillo C, et al. Among authors: moro f. Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3. Hum Mutat. 2014. PMID: 24307404 Free PMC article.

6

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM. Simonati A, et al. Among authors: moro f. Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25. Dev Med Child Neurol. 2017. PMID: 28542837 Free article.

7

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: moro f. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352

8

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M. Sicca F, et al. Among authors: moro f. Neurobiol Dis. 2011 Jul;43(1):239-47. doi: 10.1016/j.nbd.2011.03.016. Epub 2011 Mar 31. Neurobiol Dis. 2011. PMID: 21458570

9

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F. Marchese M, et al. Among authors: moro f. BMC Med Genet. 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26. BMC Med Genet. 2014. PMID: 24580998 Free PMC article.

10

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: moro f. 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.

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