Mostacciuolo ML - Search Results

1

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML. Bertolin C, et al. Among authors: mostacciuolo ml. Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29. Neurobiol Aging. 2014. PMID: 24325798

2

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.

Bertolin C, Magri C, Barlati S, Vettori A, Perini GI, Peruzzi P, Mostacciuolo ML, Vazza G. Bertolin C, et al. Among authors: mostacciuolo ml. J Hum Genet. 2011 Dec;56(12):869-72. doi: 10.1038/jhg.2011.111. Epub 2011 Oct 13. J Hum Genet. 2011. PMID: 21993419

3

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML. Gregianin E, et al. Among authors: mostacciuolo ml. Eur J Neurol. 2013 Nov;20(11):1486-91. doi: 10.1111/ene.12220. Epub 2013 Jun 25. Eur J Neurol. 2013. PMID: 23800155

4

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, Muglia M, Vettori A, Vazza G, Mostacciuolo ML. Bergamin G, et al. Among authors: mostacciuolo ml. Neuromolecular Med. 2014 Sep;16(3):540-50. doi: 10.1007/s12017-014-8307-9. Epub 2014 May 13. Neuromolecular Med. 2014. PMID: 24819634

5

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

Boaretto F, Snijders D, Salvoro C, Spalletta A, Mostacciuolo ML, Collura M, Cazzato S, Girosi D, Silvestri M, Rossi GA, Barbato A, Vazza G. Boaretto F, et al. Among authors: mostacciuolo ml. J Mol Diagn. 2016 Nov;18(6):912-922. doi: 10.1016/j.jmoldx.2016.07.002. Epub 2016 Sep 13. J Mol Diagn. 2016. PMID: 27637300 Free article.

6

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML. Bertolin C, et al. Among authors: mostacciuolo ml. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5. J Neurol Sci. 2010. PMID: 20447653

7

Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.

Salvoro C, Bortoluzzi S, Coppe A, Valle G, Feltrin E, Mostacciuolo ML, Vazza G. Salvoro C, et al. Among authors: mostacciuolo ml. Mol Neurobiol. 2018 Sep;55(9):7366-7376. doi: 10.1007/s12035-018-0922-2. Epub 2018 Feb 6. Mol Neurobiol. 2018. PMID: 29411265

8

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML. Vazza G, et al. Among authors: mostacciuolo ml. Neuromuscul Disord. 2006 Dec;16(12):878-81. doi: 10.1016/j.nmd.2006.09.002. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17052905

9

Clinical and genetic characterization of an Italian family with slow-channel syndrome.

Angelini C, Lispi L, Salvoro C, Mostacciuolo ML, Vazza G. Angelini C, et al. Among authors: mostacciuolo ml. Neurol Sci. 2019 Mar;40(3):503-507. doi: 10.1007/s10072-018-3645-2. Epub 2018 Dec 12. Neurol Sci. 2019. PMID: 30542963

10

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26.

Vazza G, Bertolin C, Scudellaro E, Vettori A, Boaretto F, Rampinelli S, De Sanctis G, Perini G, Peruzzi P, Mostacciuolo ML. Vazza G, et al. Among authors: mostacciuolo ml. Mol Psychiatry. 2007 Jan;12(1):87-93. doi: 10.1038/sj.mp.4001895. Epub 2006 Sep 12. Mol Psychiatry. 2007. PMID: 16969366

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