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Items: 31

1.

New missense variants of NDUFA11 associated with late-onset myopathy.

Peverelli L, Legati A, Lamantea E, Nasca A, Lerario A, Galimberti V, Ghezzi D, Lamperti C.

Muscle Nerve. 2019 Aug;60(2):E11-E14. doi: 10.1002/mus.26511. Epub 2019 May 30. No abstract available.

PMID:
31074871
2.

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.

Montano V, Simoncini C, Calì CL, Legati A, Siciliano G, Mancuso M.

Case Rep Neurol Med. 2019 Mar 6;2019:5918632. doi: 10.1155/2019/5918632. eCollection 2019.

3.

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Lamquet S, Ramos EM, Legati A, Coppola G, Hemelsoet D, Vanakker OM.

Ann Clin Transl Neurol. 2019 Feb 1;6(3):605-609. doi: 10.1002/acn3.702. eCollection 2019 Mar.

4.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
5.

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Catania A, Legati A, Peverelli L, Nanetti L, Marchet S, Zanetti N, Lamperti C, Ghezzi D.

Am J Med Genet A. 2019 May;179(5):827-831. doi: 10.1002/ajmg.a.61092. Epub 2019 Feb 17.

PMID:
30773800
6.

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V.

Front Genet. 2018 Dec 7;9:625. doi: 10.3389/fgene.2018.00625. eCollection 2018.

7.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

8.

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Ravasio V, Ritelli M, Legati A, Giacopuzzi E.

Bioinformatics. 2018 Sep 1;34(17):3038-3040. doi: 10.1093/bioinformatics/bty303.

PMID:
29668842
9.

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Invernizzi F, Zorzi G, Legati A, Coppola G, D'Adamo P, Nardocci N, Garavaglia B, Ghezzi D.

Eur J Med Genet. 2018 Oct;61(10):581-584. doi: 10.1016/j.ejmg.2018.03.011. Epub 2018 Apr 3.

PMID:
29621620
10.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.

Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Review.

11.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D.

J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12.

12.

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S.

Metab Brain Dis. 2018 Jun;33(3):805-812. doi: 10.1007/s11011-017-0181-3. Epub 2018 Jan 23. Review.

PMID:
29359243
13.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

14.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D.

J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27.

15.

Brain calcifications and PCDH12 variants.

Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM.

Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug.

16.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

17.

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia.

Gardella R, Sacchetti E, Legati A, Magri C, Traversa M, Gennarelli M.

Psychiatry Res. 2017 Dec;258:598-599. doi: 10.1016/j.psychres.2016.10.057. Epub 2016 Oct 29. No abstract available.

PMID:
28043646
18.

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Fong JC, Rojas JC, Bang J, Legati A, Rankin KP, Forner S, Miller ZA, Karydas AM, Coppola G, Grouse CK, Ralph J, Miller BL, Geschwind MD.

J Alzheimers Dis. 2017;55(1):249-258.

19.

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.

Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.

PMID:
27549011
20.

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D.

Hum Mutat. 2016 Sep;37(9):898-903. doi: 10.1002/humu.23033. Epub 2016 Jul 11.

21.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M.

Biochim Biophys Acta. 2016 Aug;1857(8):1326-1335. doi: 10.1016/j.bbabio.2016.02.022. Epub 2016 Mar 8.

22.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Erratum in: Brain. 2018 Nov 1;141(11):e82.

PMID:
26912632
23.

Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.

Røsby O, Legati A, Coppola G.

J Neurol. 2016 Mar;263(3):594-6. doi: 10.1007/s00415-016-8033-3. Epub 2016 Feb 9. No abstract available.

PMID:
26860091
24.

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group.

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30.

PMID:
26129893
25.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G.

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

26.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D.

Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1. No abstract available.

27.

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques.

Moreno F, Rabinovici GD, Karydas A, Miller Z, Hsu SC, Legati A, Fong J, Schonhaut D, Esselmann H, Watson C, Stephens ML, Kramer J, Wiltfang J, Seeley WW, Miller BL, Coppola G, Grinberg LT.

Acta Neuropathol Commun. 2015 Apr 3;3:19. doi: 10.1186/s40478-015-0190-6.

28.

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Ardissone A, Granata T, Legati A, Diodato D, Melchionda L, Lamantea E, Garavaglia B, Ghezzi D, Moroni I.

JIMD Rep. 2015;22:115-20. doi: 10.1007/8904_2015_419. Epub 2015 Mar 13.

29.

Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy.

Ferrer I, Legati A, García-Monco JC, Gomez-Beldarrain M, Carmona M, Blanco R, Seeley WW, Coppola G.

J Neuropathol Exp Neurol. 2015 Apr;74(4):370-9. doi: 10.1097/NEN.0000000000000180.

30.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, Crow YJ, Campion D, Coppola G, Oliveira JR.

Hum Mutat. 2015 May;36(5):489-95. doi: 10.1002/humu.22778. Epub 2015 Apr 6. Review.

PMID:
25726928
31.

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.

Hayashi T, Legati A, Nishikawa T, Coppola G.

Psychiatry Clin Neurosci. 2015 Feb;69(2):77-83. doi: 10.1111/pcn.12238. Epub 2014 Oct 17.

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