Mostacciuolo ML - Search Results

1

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, Rossetto MG, Cavallaro T, Rizzuto N, Carelli V, Salviati L, Mostacciuolo ML, Martinuzzi A. Boaretto F, et al. Among authors: mostacciuolo ml. Neurology. 2010 Jun 8;74(23):1919-21. doi: 10.1212/WNL.0b013e3181e240f9. Neurology. 2010. PMID: 20530328 No abstract available.

2

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

3

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A. Dalpozzo F, et al. Among authors: mostacciuolo ml. Neurology. 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df. Neurology. 2003. PMID: 12939451 No abstract available.

4

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

5

Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy.

Vettori A, Bergamin G, Moro E, Vazza G, Polo G, Tiso N, Argenton F, Mostacciuolo ML. Vettori A, et al. Among authors: mostacciuolo ml. Neuromuscul Disord. 2011 Jan;21(1):58-67. doi: 10.1016/j.nmd.2010.09.002. Epub 2010 Oct 14. Neuromuscul Disord. 2011. PMID: 20951042

6

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.

Bergamin G, Dalla Torre C, Cacciavillani M, Lucchetta M, Boaretto F, Campagnolo M, Mostacciuolo ML, Briani C. Bergamin G, et al. Among authors: mostacciuolo ml. Muscle Nerve. 2014 Jan;49(1):145-6. doi: 10.1002/mus.23985. Muscle Nerve. 2014. PMID: 23929728 No abstract available.

7

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

8

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML. Muglia M, et al. Among authors: mostacciuolo ml. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. doi: 10.1136/jnnp.2007.115774. J Neurol Neurosurg Psychiatry. 2007. PMID: 17940179 Free PMC article. No abstract available.

9

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

10

Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria.

Bergamin G, Cieri D, Vazza G, Argenton F, Mostacciuolo ML. Bergamin G, et al. Among authors: mostacciuolo ml. Biochim Biophys Acta. 2016 Jun;1860(6):1247-55. doi: 10.1016/j.bbagen.2016.03.007. Epub 2016 Mar 9. Biochim Biophys Acta. 2016. PMID: 26968460

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