Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.

Sci Transl Med. 2012 - 19/12/2013

Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation.

Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.

Biol Psychiatry. 2013 - 01/09/2013

Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives.

Nizzardo M, Simone C, Falcone M, Riboldi G, Comi GP, Bresolin N, Corti S.

Cell Transplant. 2013 - 01/07/2013

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 - 01/07/2013

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, Bresolin N, Comi GP.

Cell Mol Life Sci. 2013 - 18/06/2013

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.

Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 - 31/05/2013

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C,Griffanti L, Fumagalli M, Pozzoli U, Riva S, Calabrese E, Sikora M, Casals F, Comi GP, Bresolin N, Cáceres M, Clerici M, Sironi M.

Hum Mutat. 2013 - 31/05/2013

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation.

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

Neurology. 2013 - 28/05/2013

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients.

Remiche G, Lo Mauro A, Tarsia P, Ronchi D, Bordoni A, Magri F, Comi GP, Aliverti A, D'Angelo MG.

Respir Physiol Neurobiol. 2013 - 01/05/2013

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C,Riboldi G, Mazzini L, Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. - 28/02/2013

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, MeitingerT, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 - 28/02/2013

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E.

J Med Genet. 2013 - 28/02/2013

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP.

Am J Hum Genet. 2013 - 07/02/2013

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V, Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A;Lombardia GENS collaborators.

BMC Neurol. 2013 - 15/01/2013

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy.

Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

Epub 2013 - 11/01/2013

Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis.

Dilena R, Abicht A, Sergi P, Comi GP, Fonzo AD, Chidini G, Natacci F, Barbieri S, Lochmüller H.

J Child Neurol. 2013 - 04/01/2013

A functional variant in ERAP1 predisposes to multiple sclerosis

Guerini FR, Cagliani R, Forni D, Agliardi C, Caputo D, Cassinotti A, Galimberti D, Fenoglio C, Biasin M, Asselta R, Scarpini E, Comi GP, Bresolin N, Clerici M, Sironi M.

PLoS One. 2012 - 31/12/2012

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2012 - 31/12/2012

Sodium bicarbonate treatment during transient or sustained lactic acidemia in normoxic and normotensive rats

Valenza F, Pizzocri M, Salice V, Chevallard G, Fossali T, Coppola S, Froio S, Polli F, Gatti S, Fortunato F, Comi GP, Gattinoni L.

PLoS One. 2012 - 31/12/2012

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M.

Brain. 2012 - 30/11/2012

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP.

Neuromuscul Disord. 2012 - 30/11/2012

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium.

Neurobiol - 31/10/2012

Metformin overdose causes platelet mitochondrial dysfunction in humans.

Protti A, Lecchi A, Fortunato F, Artoni A, Greppi N, Vecchio S, Fagiolari G, Moggio M, Comi GP, Mistraletti G, Lanticina B, Faraldi L, Gattinoni L.

Crit Care. 2012 - 03/10/2012

Direct reprogramming of human astrocytes into neural stem cells and neurons.

Corti S, Nizzardo M, Simone C, Falcone M, Donadoni C, Salani S, Rizzo F, Nardini M, Riboldi G, Magri F, Zanetta C, Faravelli I, Bresolin N, Comi GP.

Exp Cell Res. 2012 - 01/08/2012

Italian Group on GSDII. New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.

Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A.

Muscle Nerve. 2012 - 31/07/2012

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies

Salani S, Donadoni C, Rizzo F, Bresolin N, Comi GP, Corti S.

J Cell Mol Med. 2012 - 31/07/2012

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients

Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S, Magri F, Raimondi M, D'Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP, Lucchiari S.

J Neurol Sci. 2012 - 15/07/2012

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E.

Neurology - 10/07/2012

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

Cagliani R, Guerini FR, Fumagalli M, Riva S, Agliardi C, Galimberti D, Pozzoli U, Goris A, Dubois B, Fenoglio C, Forni D, Sanna S, Zara I, Pitzalis M, Zoledziewska M, Cucca F, Marini F, Comi GP, Scarpini E, Bresolin N, Clerici M, Sironi M.

Mol Biol Evol. 2012 - 30/06/2012

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis.

Nizzardo M, Simone C, Falcone M, Riboldi G, Rizzo F, Magri F, Bresolin N, Comi GP, Corti S.

Cell Mol Life Sci. 2012 - 31/05/2012

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients.

D'Angelo MG, Gandossini S, Martinelli Boneschi F, Sciorati C, Bonato S, Brighina E, Comi GP, Turconi AC, Magri F, Stefanoni G, Brunelli S, Bresolin N, Cattaneo D, Clementi E.

Pharmacol Res. 2012 - 30/04/2012

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

Ranieri M, Del Bo R, Bordoni A, Ronchi D, Colombo I, Riboldi G, Cosi A, Servida M, Magri F, Moggio M, Bresolin N, Comi GP, Corti S.

J Neurol Sci. 2012 - 14/04/2012

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A, Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP.

Eur J Hum Genet. 2012 - 30/03/2012

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S, Lucchiarri S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi GP, Gribaa M.

J Hum Genet. 2012 - 30/03/2012

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Tiloca C, Ratti A, Pensato V, Castucci A, Sorarù G, Del Bo R, Corrado L, Cereda C, D'Ascenzo C, Comi GP, Mazzini L, Castellotti B, Ticozzi N, Gellera C, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2012 - 30/03/2012

Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.

Romei M, D'Angelo MG, LoMauro A, Gandossini S, Bonato S, Brighina E, Marchi E, Comi GP, Turconi AC, Pedotti A, Bresolin N, Aliverti A.

Respir Med. 2012 - 28/02/2012

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Cagliani R, Fumagalli M, Guerini FR, Riva S, Galimberti D, Comi GP, Agliardi C, Scarpini E, Pozzoli U, Forni D, Caputo D, Asselta R, Biasin M, Paraboschi EM, Bresolin N, Clerici M, Sironi M.

Hum Genet. 2012 - 31/01/2012

Genetic background predicts poor prognosis in frontotemporal lobar degeneration.

Borroni B, Grassi M, Archetti S, Papetti A, Del Bo R, Bonvicini C, Comi GP, Gennarelli M, Bellelli G, Di Luca M, Padovani A.

Neurodegener Dis. 2011 - 31/12/2011

Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site

D'Angelo MG, Lorusso ML, Civati F, Comi GP, Magri F, Del Bo R, Guglieri M, Molteni M, Turconi AC, Bresolin N.

Pediatr Neurol. 2011 - 30/11/2011

Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells

Nizzardo M, Simone C, Falcone M, Locatelli F, Riboldi G, Comi GP, Corti S.

Cell Mol Life Sci. 2010 - 30/11/2011

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2011 - 30/11/2011

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development.

Riboldi G, Nizzardo M, Simone C, Falcone M, Bresolin N, Comi GP, Corti S.

Prog Neurobiol. 2011 - 30/10/2011

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia

Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2011 - 15/09/2011

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson’s disease

Pacelli C, De Rasmo D, Signorile A, Grattagliano I, di Tullio G, D'Orazio A, Nico B, Comi GP, Ronchi D, Ferranini E, Pirolo D, Seibel P, Schubert S, Gaballo A, Villani G, Cocco T.

Biochim Biophys Acta. 2011 - 31/08/2011

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.

Biochem Biophys Res Commun. 2011 - 26/08/2011

Spinal cord calcification in an early-onset progressive leukoencephalopathy

Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U.

J Child Neurol. 2011 - 31/07/2011

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP.

J Neurol. 2011 - 30/07/2011

Respiratory pattern in an adult population of dystrophic patients

D'Angelo MG, Romei M, Lo Mauro A, Marchi E, Gandossini S, Bonato S, Comi GP, Magri F, Turconi AC, Pedotti A, Bresolin N, Aliverti A.

J Neurol Sci. 2011 - 15/07/2011

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP.

BMC Neurol. 2011 - 12/07/2011

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

Nizzardo M, Nardini M, Ronchi D, Salani S, Donadoni C, Fortunato F, Colciago G, Falcone M, Simone C, Riboldi G, Govoni A, Bresolin N, Comi GP, Corti S.

- 30/06/2011

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Med Genet. 2011 - 11/03/2011

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

Riboldi G, Del Bo R, Ranieri M, Magri F, Sciacco M, Moggio M, Bresolin N, Corti S, Comi GP.

Case Rep Neurol. 2011 - 23/02/2011

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP.

Neurol Sci. 2011 - 15/01/2011

Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis

Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Simone C, Falcone M, Riboldi G, Govoni A, Bresolin N, Comi GP.

Hum Mol Genet. 2010 - 01/10/2010

Congenital muscular dystrophies with cognitive impairment. A population study

Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E.

Neurology. 2010 - 07/09/2010

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis

Crugnola V, Lamperti C, Lucchini V, Ronchi D, Peverelli L, Prelle A, Sciacco M, Bordoni A, Fassone E, Fortunato F, Corti S, Silani V, Bresolin N, Di Mauro S, Comi GP, Moggio M.

Arch Neurol. 2010 - 31/07/2010