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Research Output 1987 2020

2020

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

Faravelli, I., Meneri, M., Saccomanno, D., Velardo, D., Abati, E., Gagliardi, D., Parente, V., Petrozzi, L., Ronchi, D., Stocchetti, N., Calderini, E., D’Angelo, G., Chidini, G., Prandi, E., Ricci, G., Siciliano, G., Bresolin, N., Comi, G. P., Corti, S., Magri, F. & 1 others, Govoni, A., Jan 1 2020, (Accepted/In press) In : Journal of Cellular and Molecular Medicine.

Research output: Contribution to journalArticle

Open Access
Spinal Muscular Atrophies of Childhood
Intermediate Filaments
Cerebrospinal Fluid
Spinal Muscular Atrophy
Therapeutics
2019

Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis

Abati, E., Bresolin, N., Comi, G. & Corti, S., Oct 1 2019, In : Molecular Neurobiology. 56, 10, p. 6703-6715 13 p.

Research output: Contribution to journalReview article

Amyotrophic Lateral Sclerosis
Cell- and Tissue-Based Therapy
Stem Cells
Motor Neurons
Therapeutics

Anti-MAG IgM: differences in antibody tests and correlation with clinical findings

Matà, S., Ambrosini, S., Saccomanno, D., Biagioli, T., Carpo, M., Amantini, A., Giannini, F., Barilaro, A., Toscani, L., Del Mastio, M., Comi, G. P. & Sorbi, S., Oct 2019, In : Neurological Sciences.

Research output: Contribution to journalArticle

Myelin-Associated Glycoprotein
Immunoglobulin M
Myelin Sheath
Antibodies
Peripheral Nerves

Anti-MAG IgM: differences in antibody tests and correlation with clinical findings

Matà, S., Ambrosini, S., Saccomanno, D., Biagioli, T., Carpo, M., Amantini, A., Giannini, F., Barilaro, A., Toscani, L., Del Mastio, M., Comi, G. P. & Sorbi, S., Jan 1 2019, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

Myelin-Associated Glycoprotein
Immunoglobulin M
Myelin Sheath
Antibodies
Peripheral Nerves

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, G. P., Corti, S. & Govoni, A., Jan 1 2019, In : Frontiers in Neurology. 10, JAN, 38.

Research output: Contribution to journalArticle

Open Access
MELAS Syndrome
Intestinal Pseudo-Obstruction
Stroke
Mitochondrial Diseases
Mutation

Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy

Italian Network for Laminopathies (NIL), Peretto, G., Di Resta, C., Perversi, J., Forleo, C., Maggi, L., Politano, L., Barison, A., Previtali, S. C., Carboni, N., Brun, F., Pegoraro, E., D'Amico, A., Rodolico, C., Magri, F., Manzi, R. C., Palladino, A., Isola, F., Gigli, L., Mongini, T. E. & 21 others, Semplicini, C., Calore, C., Ricci, G., Comi, G. P., Ruggiero, L., Bertini, E., Bonomo, P., Nigro, G., Resta, N., Emdin, M., Favale, S., Siciliano, G., Santoro, L., Sinagra, G., Limongelli, G., Ambrosi, A., Ferrari, M., Golzio, P. G., Bella, P. D., Benedetti, S. & Sala, S., 2019, In : Annals of Internal Medicine. 171, 7, p. 458-463 6 p.

Research output: Contribution to journalArticle

Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy

Italian Network for Laminopathies (NIL), Sep 3 2019, In : Annals of Internal Medicine.

Research output: Contribution to journalArticle

Lamin Type A
Cardiomyopathies
Neuromuscular Manifestations
Heart Diseases
Nervous System

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

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons
Induced Pluripotent Stem Cells
Neural Stem Cells
Transplantation
Phenotype
Motor Neuron Disease
Open Access
cerebrospinal fluid
Cerebrospinal fluid
Intermediate Filaments
Amyotrophic Lateral Sclerosis
neurons

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

Barbullushi, K., Abati, E., Rizzo, F., Bresolin, N., Comi, G. P. & Corti, S., Jan 1 2019, In : Molecular Neurobiology. 56, 9, p. 6460-6471

Research output: Contribution to journalReview article

Mitochondrial Dynamics
Dynamins
Mutation
GTP Phosphohydrolases
Mitochondrial Membranes

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

Sottnik, J. L., Mallaredy, V., Chauca-Diaz, A., Ritterson Lew, C., Owens, C., Dancik, G. M., Pagliarani, S., Lucchiari, S., Moggio, M., Ripolone, M., Comi, G. P., Frierson, H. F., Clouthier, D. & Theodorescu, D., Mar 12 2019, In : Carcinogenesis. 40, 1, p. 194-201 8 p.

Research output: Contribution to journalArticle

Urinary Bladder Neoplasms
Carcinogenesis
Urinary Bladder
Knockout Mice
Urothelium

Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentation in a liver transplant recipient

Abati, E., Gagliardi, D., Velardo, D., Meneri, M., Conte, G., Cinnante, C., Bresolin, N., Comi, G. & Corti, S., Jan 1 2019, (Accepted/In press) In : Transplant Infectious Disease. e13236.

Research output: Contribution to journalArticle

Human Herpesvirus 2
Polymerase Chain Reaction
Acyclovir
Liver
Cerebrospinal Fluid
Open Access
Induced Pluripotent Stem Cells
Duchenne Muscular Dystrophy
Skeletal Muscle
Muscles
Dystrophin

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, G. P., Pozzoli, U. & Corti, S., Feb 1 2019, In : Brain : a journal of neurology. 142, 2, p. 276-294 19 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Nucleotide Motifs
Motor Neurons
SMN Complex Proteins
Synaptotagmins

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, G. P., Pozzoli, U. & Corti, S., 2019, In : Brain. 142, 2, p. 276-294 19 p.

Research output: Contribution to journalArticle

Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients

Musumeci, O., Barca, E., Lamperti, C., Servidei, S., Comi, G. P., 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., Jan 1 2019, In : Frontiers in Neurology. 10, FEB, 160.

Research output: Contribution to journalArticle

Open Access
Lipomatosis
Lipoma
Incidence
Mitochondrial Diseases
MERRF Syndrome

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

Musumeci, O., Barca, E., Lamperti, C., Servidei, S., Comi, G. P., 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., 2019, In : Frontiers in Neurology. 10, p. 160

Research output: Contribution to journalArticle

Lipomatosis
Lipoma
Incidence
Mitochondrial Diseases
MERRF Syndrome

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, S. C., Politano, L., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

Research output: Contribution to journalArticle

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

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

Bitetto, G., Ronchi, D., Bonato, S., Pittaro, A., Compagnoni, G. M., Bordoni, A., Salani, S., Frattini, E., Lopez, G., Cribiù, F. M., Corti, S., Comi, G. P., Bresolin, N. & Di Fonzo, A., Dec 1 2019, In : Human Molecular Genetics. 28, 23, p. 3921-3927 7 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Nuclear Pore
Central Nervous System
Fibroblasts
Purkinje Cells

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis

Gagliardi, D., Comi, G. P., Bresolin, N. & Corti, S., 2019, In : Journal of Cellular and Molecular Medicine. 23, 3, p. 1647-1656

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
MicroRNAs
Cell Death
Motor Neurons
Apoptosis

Molecular Approaches for the Treatment of Pompe Disease

Bellotti, A. S., Andreoli, L., Ronchi, D., Bresolin, N., Comi, G. P. & Corti, S., Jan 1 2019, (Accepted/In press) In : Molecular Neurobiology.

Research output: Contribution to journalReview article

Glycogen Storage Disease Type II
Molecular Medicine
Enzyme Replacement Therapy
Therapeutics
Terminator Codon

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

Brogna, C., Cristiano, L., Verdolotti, T., Pichiecchio, A., Cinnante, C., Sansone, V., Sconfienza, L. M., Berardinelli, A., Garibaldi, M., Antonini, G., Pane, M., Pera, M. C., Antonaci, L., Ficociello, L., Albamonte, E., Tasca, G., Begliuomini, C., Tartaglione, T., Maggi, L., Govoni, A. & 3 others, Comi, G., Colosimo, C. & Mercuri, E., Jan 1 2019, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Muscles
Muscular Atrophy
Thigh
Patient Participation

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, F. M., Simoncini, C., Primiano, G., Vercelli, L., Rubegni, A., Galvagni, A., Moggio, M., Comi, G. P., Carelli, V., Toscano, A., Padovani, A., Siciliano, G. & Mancuso, M., Jan 1 2019, In : Journal of Neurology.

Research output: Contribution to journalReview article

Mitochondrial Diseases
Myalgia
Kearns-Sayre Syndrome
Mitochondrial DNA
Mutation

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, F. M., Simoncini, C., Primiano, G., Vercelli, L., Rubegni, A., Galvagni, A., Moggio, M., Comi, G. P., Carelli, V., Toscano, A., Padovani, A., Siciliano, G. & Mancuso, M., 2019, In : Journal of Neurology. 266, 4, p. 953-959 7 p.

Research output: Contribution to journalArticle

Ataxia
Ranvier's Nodes
Spinocerebellar Degenerations
Induced Pluripotent Stem Cells
Mutation

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

Research output: Contribution to journalArticle

Open Access
Muscular Diseases
Mitochondrial DNA
Mutation
Mitochondrial Myopathies
Nuclear Proteins

Ophthalmoplegia due to Miller Fisher syndrome in a patient with myasthenia gravis

Brusa, R., Faravelli, I., Gagliardi, D., Magri, F., Cogiamanian, F., Saccomanno, D., Cinnante, C., Mauri, E., Abati, E., Bresolin, N., Corti, S. & Comi, G. P., Jan 1 2019, In : Frontiers in Neurology. 10, JUL, 823.

Research output: Contribution to journalArticle

Open Access
Miller Fisher Syndrome
Ophthalmoplegia
Myasthenia Gravis
Ataxia
Gait Ataxia
Cell Engineering
Motor Neuron Disease
Neural Stem Cells
Motor Neurons
Spinal Muscular Atrophy

R-Loops in Motor Neuron Diseases

Perego, M. G. L., Taiana, M., Bresolin, N., Comi, G. P. & Corti, S., 2019, In : Molecular Neurobiology. 56, 4, p. 2579-2589

Research output: Contribution to journalArticle

Motor Neuron Disease
Motor Neurons
DNA Damage
DNA
Genomic Instability

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Saladini, M., Nizzardo, M., Govoni, A., Taiana, M., Bresolin, N., Comi, G. P. & Corti, S., Jan 1 2019, (Accepted/In press) In : Journal of Cellular and Molecular Medicine.

Research output: Contribution to journalReview article

Open Access
Phenotype
Nerve Degeneration
Muscular Atrophy
Motor Neurons
Therapeutics

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M. & Peverelli, L., Jan 1 2019, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

Oculopharyngeal Muscular Dystrophy
Muscles
Biopsy
Chronic Progressive External Ophthalmoplegia
Inclusion Body Myositis
2018

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, G. P., Corti, S. & Di Fonzo, A., 2018, In : Parkinsonism and Related Disorders. 48, p. 109-111

Research output: Contribution to journalArticle

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, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V. & Comi, G. P., 2018, In : Neuromuscular Disorders. 28, 6, p. 532-537

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Founder Effect
Lower Extremity
Genes
Muscles
External Carotid Artery
Carotid Arteries
Aneurysm
Stroke
Endovascular Procedures

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, G. P. & Corti, S., Aug 2 2018, In : Frontiers in Neurology. 9, AUG, 619.

Research output: Contribution to journalArticle

Aneurysm
Neuromuscular Manifestations
Neuromuscular Junction Diseases
Oculomotor Nerve Diseases
Cranial Nerve Diseases

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, G. P., Carrabba, M. & Corti, S., Nov 30 2018, In : Frontiers in Neurology. 9, NOV, 1031.

Research output: Contribution to journalArticle

Common Variable Immunodeficiency
Optic Neuritis
Central Nervous System
Immunoglobulins
Leukocytosis

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., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Nov 1 2018, In : Genes. 9, 11, 524.

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

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., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

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. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

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., Simona, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M. & 4 others, Sciacco, M., Toscano, A., Comi, G. P. & Moggio, M., 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 449-462

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Skeletal Muscle
Muscles
Biopsy
Dystrophin
Duchenne Muscular Dystrophy
Cardiac Myocytes
Fibrosis
Inbred mdx Mouse

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

consortium, ITALSGEN., Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, N., Smith, B. N. & 31 others, Marangi, G., Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Lauria, G., Tiloca, C., Comi, G. P., Cereda, C., Taroni, F., Ratti, A., Gellera, C. & Silani, V., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, ITALSGEN consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium & Caponnetto, C., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 401 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, M., Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, L., Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, A., Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurrò, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, S., Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y-F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Q., Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J. R., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., MacGowan, D. J., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S., LeNail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Wyman, S. K., Van Eyk, J. E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Züchner, S., Schule, R., McCauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Ravits, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., McMillan, C., Elman, L., Pioro, E., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, G., Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., van Es, M., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K., Basak, A. N., Mora, J. S., Drory, V., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P., Chio, A., Cooper-Knock, J., Dekker, A., Drory, V., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Glass, J., Kenna, K., Kiernan, M., Landers, J., McLaughlin, R., Mill, J., Neto, M. M., Pardina, J. M., Morrison, K., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, P., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L., van Eijk, K., van Es, M., van Vugt, J., Veldink, J., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Trojanowski, J. Q., Brown R.H., J., van den Berg, L. H., Veldink, J. H., Stone, D. J., Tienari, P., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Hereditary Spastic Paraplegia

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, G. P., 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3407-3417

Research output: Contribution to journalArticle

Glycogen Storage Disease Type III
Protein-Restricted Diet
Hepatomegaly
Exercise
Glucose

Interpreting genetic variants in titin in patients with muscle disorders

Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., Tasca, G., Ruggiero, L., Bello, L., Magri, F., Giugliano, T., Torella, A., Evila, A., Di Fruscio, G., Vanakker, O., Gibertini, S., Vercelli, L., Ruggieri, A., Antozzi, C., Luque, H., Janssens, S., Pasanisi, M. B. & 21 others, Fiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., May 1 2018, In : JAMA Neurology. 75, 5, p. 557-565 9 p.

Research output: Contribution to journalArticle

Connectin
Muscular Diseases
Genes
Mutation
Messenger RNA