Comi GP - Search Results

1

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: comi gp. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.

2

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G. Moroni I, et al. Among authors: comi gp. J Neurol. 1995 Feb;242(3):127-33. doi: 10.1007/BF00936884. J Neurol. 1995. PMID: 7751854

3

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.

Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M. Sciacco M, et al. Among authors: comi gp. J Neurol. 2001 Sep;248(9):778-88. doi: 10.1007/s004150170094. J Neurol. 2001. PMID: 11596783

4

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP. Lucchiari S, et al. Among authors: comi gp. Am J Med Genet. 2002 May 1;109(3):183-90. doi: 10.1002/ajmg.10347. Am J Med Genet. 2002. PMID: 11977176

5

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.

Fagiolari G, Sciacco M, Chiveri L, Lamperti C, Comi GP, Scarlato G, Moggio M, Prelle A. Fagiolari G, et al. Among authors: comi gp. Muscle Nerve. 2002 Aug;26(2):265-9. doi: 10.1002/mus.10172. Muscle Nerve. 2002. PMID: 12210391

6

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. Crimi M, et al. Among authors: comi gp. Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69. Neurology. 2003. PMID: 12796552

7

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Prelle A, Comi GP, Bresolin N, Moggio M. Lamperti C, et al. Among authors: comi gp. J Neurol Sci. 2006 Apr 15;243(1-2):47-51. doi: 10.1016/j.jns.2005.11.024. Epub 2006 Jan 4. J Neurol Sci. 2006. PMID: 16386759

8

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

D'Adda E, Sciacco M, Fruguglietti ME, Crugnola V, Lucchini V, Martinelli-Boneschi F, Zecca C, Lamperti C, Comi GP, Bresolin N, Moggio M, Prelle A. D'Adda E, et al. Among authors: comi gp. J Neurol. 2006 Nov;253(11):1399-403. doi: 10.1007/s00415-006-0223-y. Epub 2006 Jun 13. J Neurol. 2006. PMID: 16773272

9

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP. Corti S, et al. Among authors: comi gp. J Neurol Sci. 2008 Mar 15;266(1-2):97-103. doi: 10.1016/j.jns.2007.09.015. Epub 2007 Oct 23. J Neurol Sci. 2008. PMID: 17936304

10

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.

Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F, Locatelli F, Crugnola V, Comi GP, Bresolin N, Moggio M, Lamperti C. Fagiolari G, et al. Among authors: comi gp. J Child Neurol. 2010 Mar;25(3):312-20. doi: 10.1177/0883073809338958. Epub 2009 Jul 25. J Child Neurol. 2010. PMID: 19633331

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