Ardissone A - Search Results

1

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M. Ardissone A, et al. BMC Med Genet. 2013 Sep 11;14:89. doi: 10.1186/1471-2350-14-89. BMC Med Genet. 2013. PMID: 24024685 Free PMC article.

2

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. McCormick EM, et al. Ann Neurol. 2023 Oct;94(4):696-712. doi: 10.1002/ana.26716. Epub 2023 Aug 12. Ann Neurol. 2023. PMID: 37255483 Free PMC article.

3

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.

Diodato D, Schiff M, Cohen BH, Bertini E, Rahman S; Workshop participants. Diodato D, et al. Neuromuscul Disord. 2023 Aug;33(8):700-709. doi: 10.1016/j.nmd.2023.06.002. Epub 2023 Jun 15. Neuromuscul Disord. 2023. PMID: 37541860 No abstract available.

4

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. Saredi S, et al. Among authors: ardissone a. Muscle Nerve. 2009 Jun;39(6):845-8. doi: 10.1002/mus.21271. Muscle Nerve. 2009. PMID: 19396839

5

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M. Saredi S, et al. Among authors: ardissone a. J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2. J Neurol Sci. 2012. PMID: 22554691 Free PMC article.

6

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M. Saredi S, et al. Among authors: ardissone a. Eur J Paediatr Neurol. 2014 May;18(3):404-8. doi: 10.1016/j.ejpn.2013.10.005. Epub 2013 Oct 27. Eur J Paediatr Neurol. 2014. PMID: 24183756

7

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Ardissone A, Brugnoni R, Gandioli C, Milani M, Ciano C, Uziel G, Moroni I. Ardissone A, et al. Muscle Nerve. 2014 Jul;50(1):145-7. doi: 10.1002/mus.24205. Epub 2014 May 5. Muscle Nerve. 2014. PMID: 24515601 No abstract available.

8

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: ardissone a. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28. Am J Hum Genet. 2014. PMID: 25175347 Free PMC article.

9

Mitochondrial Diseases in Childhood.

Ardissone A, Lamantea E, Invernizzi F, Zeviani M, Genitrini S, Moroni I, Uziel G. Ardissone A, et al. Curr Mol Med. 2014;14(8):1069-1078. doi: 10.2174/1566524014666141010155317. Curr Mol Med. 2014. PMID: 25323866

10

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I. Invernizzi F, et al. Among authors: ardissone a. Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection 2014. Front Genet. 2014. PMID: 25477904 Free PMC article.

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