Moro F - Search Results

1

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Moro F, Rubegni A, Pochiero F, Mero S, Procopio E, Baldacci J, Donati MA, Santorelli FM. Moro F, et al. Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22. Neuromuscul Disord. 2019. PMID: 30553701

2

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

3

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

4

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

5

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

Moro F, Gismondi F, Pezzini F, Santorelli FM, Simonati A. Moro F, et al. Neurol Sci. 2014 Apr;35(4):605-7. doi: 10.1007/s10072-013-1587-2. Epub 2013 Nov 26. Neurol Sci. 2014. PMID: 24277206 No abstract available.

6

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.

7

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.

8

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: moro f. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.

9

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.

Di Fabio R, Moro F, Pestillo L, Meschini MC, Pezzini F, Doccini S, Casali C, Pierelli F, Simonati A, Santorelli FM. Di Fabio R, et al. Among authors: moro f. Neurology. 2014 Nov 4;83(19):1769-70. doi: 10.1212/WNL.0000000000000953. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274848 No abstract available.

10

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease.

Simonati A, Pezzini F, Moro F, Santorelli FM. Simonati A, et al. Among authors: moro f. Curr Mol Med. 2014 Oct 13;14(8):1043-1051. doi: 10.2174/1566524014666141010154913. Curr Mol Med. 2014. PMID: 25323868

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