U.O.D. Malattie Neuromuscolari e Rare

Pubblicazioni 2019

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathologica Comms - 13/09/2019

Value of structured reporting in neuromuscular disorders

Alessandrino F, Cristiano L, Cinnante CM, Tartaglione T, Gerevini S, Verdolotti T, Colafati GS, Ghione E, Vitale R, Peverelli L, Brogna C, Berardinelli A, Moggio M, Mercuri EM, Pichiecchio A.

La radiologia medica - 12/07/2019

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Advances in Therapy - 13/05/2019

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.

Human Mutation - 04/05/2019

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.

Frontiers in Neurology - 26/04/2019

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

Baiardi S, Redaelli V, Ripellino P, Rossi M, Franceschini A, Moggio M, Sola P, Ladogana A, Fociani P, Magherini A, Capellari S, Giese A, Caughey B, Caroppo P, Parchi P.

and Psychiatry - 09/04/2019

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 - 12/03/2019

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.

Frontiers in Neurology - 27/02/2019

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.

Frontiers in Neurology - 31/01/2019

Pubblicazioni 2018

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Gibertini S, Ruggieri A, Saredi S, Salerno F, Blasevich F, Napoli L, Moggio M, Nigro V, Morandi L, Maggi L, Mora M.

Acta Neuropathologica Comms - 19/12/2018

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Civiletto G, Dogan SA, Cerutti R, Fagiolari G, Moggio M, Lamperti C, Benincá C, Viscomi C, Zeviani M.

EMBO Molecular Medicine - 10/11/2018

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 - 26/10/2018

The clinical spectrum of CASQ1-related myopathy

Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E.

Neurology Journals - 23/10/2018

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.

BBA - Molecular Basis of Disease - 18/10/2018

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.

Frontiers in Neurology - 15/10/2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet Journal Of Rare Diseases - 26/09/2018

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.

Neurology Journals - 25/09/2018

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.

Journal of Neuroscience Research - 09/09/2018

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.

Neuropathology and Applied Neurobiology - 04/08/2018

Muscle biopsy displaying “double trouble” pathology: Combined features of periodic paralysis and dermatomyositis

Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A.

Clinical Neuropathology - 03/08/2018

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.

Neuromuscular Disorders - 28/07/2018

A mobile app for patients with Pompe disease and its possible clinical applications

Ricci G, Baldanzi S, Seidita F, Proietti C, Carlini F, Peviani S, Antonini G, Vianello A, Siciliano G; Italian GSD II group.

Neuromuscular Disorders - 28/06/2018

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.

Neuromuscular Disorders - 28/06/2018

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A.

Clinical Genetics - 09/06/2018

Rhabdomyolysis-Associated Acute Kidney Injury

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

American Journal of Kidney Diseases - 07/06/2018

Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life

Cucchiari D, Colombo I, Amato O, Podestà MA, Reggiani F, Valentino R, Faravelli I, Testolin S, Moggio M, Badalamenti S.

CEN Case Reports - 07/05/2018

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 Neurology - 01/05/2018

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

European Journal of Neurology - 25/01/2018

Pubblicazioni 2017

Congenital myopathies: clinical phenotypes and new diagnostic tools

Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies

Italian Journal of Pediatrics - 15/11/2017

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.

The American Journal of Human Genetics - 05/10/2017

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.

Journal of Neurology - 26/08/2017

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.

Neuromuscular Disorders - 27/05/2017

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Human Mutation - 03/04/2017

The Italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP.

Muscle & Nerve - 05/01/2017

Pubblicazioni 2016

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, Moscheni C, Ripolone M, Violano R, Moggio M, Bassi MT, Puri PL, Latella L, Clementi E, De Palma C.

Cell Reports - 13/12/2016

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 - 09/12/2016

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiology of Aging - 04/11/2016

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica P, Petrini S, D'Oria V, D'Amico A, Catteruccia M, Pane M, Sivo S, Magri F, Brajkovic S, Messina S, Vita GL, Gatti B, Moggio M, Puri PL, Rocchetti M, De Nicolao G, Vita G, Comi GP, Bertini E, Mercuri E.

Neuromuscular Disorders - 26/10/2016

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M.

Orphanet Journal Of Rare Diseases - 24/10/2016

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

Ferrara AM, Sciacco M, Zovato S, Rizzati S, Colombo I, Boaretto F, Moggio M, Opocher G.

Cancer Research and Treatment - 08/10/2016

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

Colombo I, Pagliarani S, Testolin S, Cinnante CM, Fagiolari G, Ciscato P, Bordoni A, Fortunato F, Magri F, Previtali SC, Velardo D, Sciacco M, Comi GP, Moggio M.

and Psychiatry - 08/07/2016

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP.

Journal of Molecular Neuroscience - 05/07/2016

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R.

Journal of Neurology - 28/06/2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology Journals - 05/06/2016

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

Onesto E, Colombrita C, Gumina V, Borghi MO, Dusi S, Doretti A, Fagiolari G, Invernizzi F, Moggio M, Tiranti V, Silani V, Ratti A.

Acta Neuropathologica Comms - 05/05/2016

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G.

Neuromuscular Disorders - 26/04/2016

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

Pichiecchio A, Berardinelli A, Moggio M, Rossi M, Balottin U, Comi GP, Bastianello S.

Muscle & Nerve - 13/02/2016

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group.

and Psychiatry - 08/01/2016

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Nikolic A, Ricci G, Sera F, Bucci E, Govi M, Mele F, Rossi M, Ruggiero L, Vercelli L, Ravaglia S, Brisca G, Fiorillo C, Villa L, Maggi L, Cao M, D'Amico MC, Siciliano G, Antonini G, Santoro L, Mongini T, Moggio M, Morandi L, Pegoraro E, Angelini C, Di Muzio A, Rodolico C, Tomelleri G, Grazia D'Angelo M, Bruno C, Berardinelli A, Tupler R.

BMJ Open - 05/01/2016

Pubblicazioni 2015

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Peverelli L, Testolin S, Villa L, D'Amico A, Petrini S, Favero C, Magri F, Morandi L, Mora M, Mongini T, Bertini E, Sciacco M, Comi GP, Moggio M.

Neurology - 24/11/2015

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Neurology - 24/09/2015

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.

European Journal of Human Genetics - 23/09/2015

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A.

Journal of Neurology - 02/07/2015

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M.

The American Journal of Human Genetics - 17/06/2015

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

Montagnese F, Portaro S, Musumeci O, Migliorato A, Moggio M, Fagiolari G, Rodolico C.

Muscle & Nerve - 05/06/2015

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M.

JAMA Neurology - 01/06/2015

Redefining phenotypes associated with mitochondrial DNA single deletion

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

Journal of Neurology - 28/05/2015

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family

Colombo I, Pagliarani S, Testolin S, Salsano E, Napoli LM, Bordoni A, Salani S, D'Adda E, Morandi L, Farina L, Magri F, Riva M, Prelle A, Sciacco M, Comi GP, Moggio M.

Neuromuscular Disorders - 25/05/2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R,Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium.

Neurobiology of Aging - 03/04/2015

Prevalence of congenital muscular dystrophy in Italy: a population study

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

American Academy of Neurology Journals - 03/03/2015

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P.

The Journal of Clinical Endocrinology & Metabolism - 01/02/2015

Congenital myopathies: Natural history of a large pediatric cohort

Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F.

Neurology Journals - 06/01/2015