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Items: 1 to 50 of 357

1.

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratt G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jul 31;14(7):e0220714. doi: 10.1371/journal.pone.0220714. eCollection 2019.

2.

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019. Erratum in: PLoS One. 2019 Jul 31;14(7):e0220714.

3.

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.

Piga D, Salani S, Magri F, Brusa R, Mauri E, Comi GP, Bresolin N, Corti S.

Ther Adv Neurol Disord. 2019 May 3;12:1756286419833478. doi: 10.1177/1756286419833478. eCollection 2019. Review.

4.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

5.

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A.

Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.

PMID:
30850329
6.

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.

Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 Sep;56(9):6460-6471. doi: 10.1007/s12035-019-1533-2. Epub 2019 Mar 4. Review.

PMID:
30830587
7.

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Gagliardi D, Mauri E, Magri F, Velardo D, Meneri M, Abati E, Brusa R, Faravelli I, Piga D, Ronchi D, Triulzi F, Peverelli L, Sciacco M, Bresolin N, Comi GP, Corti S, Govoni A.

Front Neurol. 2019 Jan 31;10:38. doi: 10.3389/fneur.2019.00038. eCollection 2019.

8.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
9.

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons.

Rizzo F, Nizzardo M, Vashisht S, Molteni E, Melzi V, Taiana M, Salani S, Santonicola P, Di Schiavi E, Bucchia M, Bordoni A, Faravelli I, Bresolin N, Comi GP, Pozzoli U, Corti S.

Brain. 2019 Feb 1;142(2):276-294. doi: 10.1093/brain/awy330. Erratum in: Brain. 2019 May 1;142(5):e20.

10.

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis.

Gagliardi D, Comi GP, Bresolin N, Corti S.

J Cell Mol Med. 2019 Mar;23(3):1647-1656. doi: 10.1111/jcmm.13976. Epub 2019 Jan 4. Review.

11.

Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.

Mauri E, Dilena R, Boccazzi A, Ronchi D, Piga D, Triulzi F, Gagliardi D, Brusa R, Faravelli I, Bresolin N, Magri F, Corti S, Comi GP.

BMC Neurol. 2018 Dec 27;18(1):220. doi: 10.1186/s12883-018-1227-9.

12.

Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient.

Abati E, Faravelli I, Magri F, Govoni A, Velardo D, Gagliardi D, Mauri E, Brusa R, Bresolin N, Fabio G, Comi GP, Carrabba M, Corti S.

Front Neurol. 2018 Nov 30;9:1031. doi: 10.3389/fneur.2018.01031. eCollection 2018.

13.

Fibrosis Rescue Improves Cardiac Function in Dystrophin-Deficient Mice and Duchenne Patient-Specific Cardiomyocytes by Immunoproteasome Modulation.

Farini A, Gowran A, Bella P, Sitzia C, Scopece A, Castiglioni E, Rovina D, Nigro P, Villa C, Fortunato F, Comi GP, Milano G, Pompilio G, Torrente Y.

Am J Pathol. 2019 Feb;189(2):339-353. doi: 10.1016/j.ajpath.2018.10.010. Epub 2018 Nov 16.

PMID:
30448404
14.

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Sottnik JL, Mallaredy V, Chauca-Diaz A, Ritterson Lew C, Owens C, Dancik GM, Pagliarani S, Lucchiari S, Moggio M, Ripolone M, Comi GP, Frierson HF, Clouthier D, Theodorescu D.

Carcinogenesis. 2019 Mar 12;40(1):194-201. doi: 10.1093/carcin/bgy139.

PMID:
30403777
15.

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Borsani O, Piga D, Costa S, Govoni A, Magri F, Artoni A, Cinnante CM, Fagiolari G, Ciscato P, Moggio M, Bresolin N, Comi GP, Corti S.

Front Neurol. 2018 Oct 15;9:859. doi: 10.3389/fneur.2018.00859. eCollection 2018.

16.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V.

Genes (Basel). 2018 Oct 26;9(11). pii: E524. doi: 10.3390/genes9110524.

17.

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A.

Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18.

18.

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Bordoni A, Fortunato F, Ronchi D, Salani S, Guida M, Corti C, Pichler I, Bergamini C, Fato R, Pellecchia MT, Vallelunga A, Del Sorbo F, Elia A, Reale C, Garavaglia B, Mora G, Albanese A, Cogiamanian F, Ardolino G, Bresolin N, Corti S, Comi GP, Quinzii CM, Di Fonzo A.

Biochim Biophys Acta Mol Basis Dis. 2018 Dec;1864(12):3588-3597. doi: 10.1016/j.bbadis.2018.09.018. Epub 2018 Sep 19.

PMID:
30254015
19.

Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy.

Abati E, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 May;56(5):3356-3367. doi: 10.1007/s12035-018-1305-4. Epub 2018 Aug 17. Review.

PMID:
30120734
20.

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Gagliardi D, Faravelli I, Villa L, Pero G, Cinnante C, Brusa R, Mauri E, Tresoldi L, Magri F, Govoni A, Bresolin N, Comi GP, Corti S.

Front Neurol. 2018 Aug 2;9:619. doi: 10.3389/fneur.2018.00619. eCollection 2018.

21.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

Ripolone M, Lucchini V, Ronchi D, Fagiolari G, Bordoni A, Fortunato F, Mondello S, Bonato S, Meregalli M, Torrente Y, Corti S, Comi GP, Moggio M, Sciacco M.

J Neurosci Res. 2018 Sep;96(9):1576-1585. doi: 10.1002/jnr.24263.

22.

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Pagliarani S, Lucchiari S, Ulzi G, Ripolone M, Violano R, Fortunato F, Bordoni A, Corti S, Moggio M, Bresolin N, Comi GP.

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3407-3417. doi: 10.1016/j.bbadis.2018.07.031. Epub 2018 Aug 1.

23.

R-Loops in Motor Neuron Diseases.

Perego MGL, Taiana M, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 Apr;56(4):2579-2589. doi: 10.1007/s12035-018-1246-y. Epub 2018 Jul 25. Review.

PMID:
30047099
24.

Secondary prevention of cryptogenic stroke in patients with patent foramen ovale: a systematic review and meta-analysis.

Fiorelli EM, Carandini T, Gagliardi D, Bozzano V, Bonzi M, Tobaldini E, Comi GP, Scarpini EA, Montano N, Solbiati M.

Intern Emerg Med. 2018 Dec;13(8):1287-1303. doi: 10.1007/s11739-018-1909-8. Epub 2018 Jul 21.

PMID:
30032341
25.

MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors.

Rizzuti M, Filosa G, Melzi V, Calandriello L, Dioni L, Bollati V, Bresolin N, Comi GP, Barabino S, Nizzardo M, Corti S.

Sci Rep. 2018 Jul 4;8(1):10105. doi: 10.1038/s41598-018-28366-1.

26.

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.

Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF.

Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4.

PMID:
29935101
27.

The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.

Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME.

Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):3022-3037. doi: 10.1016/j.bbadis.2018.06.014. Epub 2018 Jun 19.

28.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.

Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9.

PMID:
29880332
29.

Rhabdomyolysis-Associated Acute Kidney Injury.

Esposito P, Estienne L, Serpieri N, Ronchi D, Comi GP, Moggio M, Peverelli L, Bianzina S, Rampino T.

Am J Kidney Dis. 2018 Jun;71(6):A12-A14. doi: 10.1053/j.ajkd.2018.03.009. No abstract available. Erratum in: Am J Kidney Dis. 2018 Sep;72(3):468.

30.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13.

PMID:
29759638
31.

A Rare Cause of Juvenile Stroke: Extracranial Carotid Artery Aneurysm with Venous Complete Reconstruction of the Carotid Bifurcation.

Domanin M, Lanfranconi S, Romagnoli S, Runza L, Cortini F, Comi GP, Gabrielli L.

Pediatr Neurosurg. 2018;53(4):275-279. doi: 10.1159/000487089. Epub 2018 Apr 25.

32.

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.

Corrado L, De Marchi F, Tunesi S, Oggioni GD, Carecchio M, Magistrelli L, Tesei S, Riboldazzi G, Di Fonzo A, Locci C, Trezzi I, Zangaglia R, Cereda C, D'Alfonso S, Magnani C, Comi GP, Bono G, Pacchetti C, Cantello R, Goldwurm S, Comi C.

Front Neurol. 2018 Mar 29;9:213. doi: 10.3389/fneur.2018.00213. eCollection 2018.

33.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

34.

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.

Mantero V, Lucchiari S, Balgera R, Comi GP, Salmaggi A, Rigamonti A.

Neurol Sci. 2018 Aug;39(8):1491-1492. doi: 10.1007/s10072-018-3311-8. Epub 2018 Mar 15. No abstract available.

PMID:
29546603
35.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899.

36.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, Puzzo F, Marmier S, Collaud F, Simon Sola M, Charles S, Lucchiari S, van Wittenberghe L, Vignaud A, Gjata B, Richard I, Laforet P, Malfatti E, Mithieux G, Rajas F, Comi GP, Ronzitti G, Mingozzi F.

Mol Ther. 2018 Mar 7;26(3):890-901. doi: 10.1016/j.ymthe.2017.12.019. Epub 2017 Dec 28.

37.

In Vivo Transient and Partial Cell Reprogramming to Pluripotency as a Therapeutic Tool for Neurodegenerative Diseases.

Tamanini S, Comi GP, Corti S.

Mol Neurobiol. 2018 Aug;55(8):6850-6862. doi: 10.1007/s12035-018-0888-0. Epub 2018 Jan 20. Review.

PMID:
29353456
38.

Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy.

Ramirez A, Crisafulli SG, Rizzuti M, Bresolin N, Comi GP, Corti S, Nizzardo M.

Int J Mol Sci. 2018 Jan 6;19(1). pii: E167. doi: 10.3390/ijms19010167.

39.

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

Monfrini E, Melzi V, Buongarzone G, Franco G, Ronchi D, Dilena R, Scola E, Vizziello P, Bordoni A, Bresolin N, Comi GP, Corti S, Di Fonzo A.

Parkinsonism Relat Disord. 2018 Mar;48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27. No abstract available.

40.

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.

Govoni A, Gagliardi D, Comi GP, Corti S.

Mol Neurobiol. 2018 Aug;55(8):6307-6318. doi: 10.1007/s12035-017-0831-9. Epub 2018 Jan 2. Review.

41.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

42.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
43.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):449-462. doi: 10.1111/nan.12414. Epub 2017 Jul 4.

44.

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators.

Lancet Neurol. 2017 Jul;16(7):513-522. doi: 10.1016/S1474-4422(17)30085-6. Epub 2017 Apr 28. Erratum in: Lancet Neurol. 2017 Aug;16(8):584.

45.

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Rizzo F, Ramirez A, Compagnucci C, Salani S, Melzi V, Bordoni A, Fortunato F, Niceforo A, Bresolin N, Comi GP, Bertini E, Nizzardo M, Corti S.

Sci Rep. 2017 Apr 6;7:46271. doi: 10.1038/srep46271.

46.

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

Buongarzone G, Monfrini E, Franco G, Trezzi I, Borellini L, Frattini E, Melzi V, Di Caprio AC, Ronchi D, Monzio Compagnoni G, Cogiamanian F, Ardolino G, Bresolin N, Comi GP, Corti S, Di Fonzo A.

Parkinsonism Relat Disord. 2017 Jun;39:87-88. doi: 10.1016/j.parkreldis.2017.03.007. Epub 2017 Mar 9. No abstract available.

47.

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.

D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A, Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E.

Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14.

48.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Mancuso M, Orsucci D, Angelini C, Bertini E, Bruno C, Carelli V, Comi GP, Filosto M, Lamperti C, Moggio M, Mongini T, Moroni I, Tonin P, Toscano A, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2017 Apr;27(4):e1. doi: 10.1016/j.nmd.2017.01.003. Epub 2017 Feb 8. No abstract available.

PMID:
28189480
49.

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.

Ginanneschi F, Mignarri A, Lucchiari S, Ulzi G, Comi GP, Rossi A, Dotti MT.

Neurophysiol Clin. 2017 Jun;47(3):247-252. doi: 10.1016/j.neucli.2017.01.003. Epub 2017 Jan 30.

50.

A case report with the peculiar concomitance of 2 different genetic syndromes.

Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.

Medicine (Baltimore). 2016 Dec;95(49):e5567. Review.

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