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Research Output 2008 2019

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Acute ataxia in paediatric emergency departments: a multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., Apr 4 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Ataxia
Multicenter Studies
Hospital Emergency Service
Pediatrics
Pathology

Acute ataxia in paediatric emergency departments: A multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., Jan 1 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Ataxia
Multicenter Studies
Hospital Emergency Service
Pediatrics
Pathology

Acute ataxia in paediatric emergency departments: A multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., 2019, In : Archives of Disease in Childhood. 104, 8, p. 768-774 7 p.

Research output: Contribution to journalArticle

Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo, C., Moro, F., Brisca, G., Accogli, A., Trucco, F., Trovato, R., Pedemonte, M., Severino, M., Catala, M., Capra, V., Santorelli, F. M., Bruno, C., Rossi, A. & Minetti, C., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e19-e21

Research output: Contribution to journalArticle

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. & 17 others, Fiorillo, C., Bragato, C., Moroni, I., Pegoraro, E., D’Apice, M. R., Alfei, E., Mora, M., Morandi, L., Donati, A., Evilä, A., Vihola, A., Udd, B., Bernansconi, P., Mercuri, E., Santorelli, F. M., Bertini, E. & D’Amico, A., May 10 2015, In : Journal of Neurology. 262, 7, p. 1728-1740 13 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Genes
Genetic Testing
Muscular Diseases

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

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, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Registries
Alleles
Age of Onset
Kaplan-Meier Estimate

Clinical presentation of autoinflammatory syndromes in childhood

Gattorno, M., Pelagatti, M. A., Federici, S., Brisca, G. & Martini, A., Feb 2008, In : Current Rheumatology Reviews. 4, 1, p. 34-45 12 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Exanthema
Arthritis
Mevalonate Kinase Deficiency
Fever

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., Mar 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Hypoventilation
Pediatrics
Ventilation
Monitoring
Bicarbonates

Diagnosis and management of autoinflammatory diseases in childhood

Gattorno, M., Federici, S., Pelagatti, M. A., Caorsi, R., Brisca, G., Malattia, C. & Martini, A., May 2008, In : Journal of Clinical Immunology. 28, SUPPL. 1

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Disease Management
Exanthema
Inflammation
Arthritis

Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation

Brisca, G., Fiorillo, C., Nesti, C., Trucco, F., Derchi, M., Andaloro, A., Assereto, S., Morcaldi, G., Pedemonte, M., Minetti, C., Santorelli, F. M. & Bruno, C., Mar 13 2015, In : Biochemical and Biophysical Research Communications. 458, 3, p. 601-604 4 p.

Research output: Contribution to journalArticle

RNA, Transfer, Leu
MELAS Syndrome
Cardiomyopathies
Mutation
Medical problems
RNA, Transfer, Asn
Mitochondrial Myopathies
Gene transfer
Muscle
Muscles

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., Sep 9 2017, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

Sarcoglycanopathies
Cohort Studies
Muscles
Sarcoglycans
Thigh

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 1

Research output: Contribution to journalArticle

Muscle MRI in TRPV4-related congenital distal SMA

Astrea, G., Brisca, G., Fiorillo, C., Valle, M., Tosetti, M., Bruno, C., Santorelli, F. M. & Battini, R., Jan 31 2012, In : Neurology. 78, 5, p. 364-365 2 p.

Research output: Contribution to journalArticle

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 19 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C. & Italian Network on Congenital Myopathies, Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 91

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Mutation
Muscles
Phenotype

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Mutation
Muscles
Phenotype

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Mutation
Muscles
Phenotype

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Mutation
Muscles
Phenotype

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Fiorillo, C., Moro, F., Yi, J., Weil, S., Brisca, G., Astrea, G., Severino, M., Romano, A., Battini, R., Rossi, A., Minetti, C., Bruno, C., Santorelli, F. M. & Vallee, R., 2014, In : Human Mutation. 35, 3, p. 298-302 5 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Dyneins
Cytoplasmic Dyneins
Neck
Group II Malformations of Cortical Development

Paternal germline mosaicism in collagen VI related myopathies

Armaroli, A., Trabanelli, C., Scotton, C., Venturoli, A., Selvatici, R., Brisca, G., Merlini, L., Bruno, C., Ferlini, A. & Gualandi, F., Sep 1 2015, In : European Journal of Paediatric Neurology. 19, 5, p. 533-536 4 p., 1900.

Research output: Contribution to journalArticle

Mosaicism
Muscular Diseases
Collagen
Recurrence
Mutation

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia

Astrea, G., Pecini, C., Gasperini, F., Brisca, G., Scutifero, M., Bruno, C., Santorelli, F. M., Cioni, G., Politano, L., Chilosi, A. M. & Battini, R., Oct 1 2015, In : Research in Developmental Disabilities. 45-46, p. 168-177 10 p.

Research output: Contribution to journalArticle

Dyslexia
Duchenne Muscular Dystrophy
Reading
Articulation Disorders
Language Development Disorders

Respiratory pattern in a FSDH paediatric population

Trucco, F., Pedemonte, M., Fiorillo, C., Tacchetti, P., Brisca, G., Bruno, C. & Minetti, C., May 2017, In : Respiratory Medicine. 126, p. 132

Research output: Contribution to journalArticle

Respiratory pattern in a FSHD pediatric population

Trucco, F., Pedemonte, M., Fiorillo, C., Tacchetti, P., Brisca, G., Bruno, C. & Minetti, C., Oct 1 2016, In : Respiratory Medicine. 119, p. 78-80 3 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Pediatrics
Spirometry
Population
Muscular Dystrophies

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Fiorillo, C., Brisca, G., Cassandrini, D., Scapolan, S., Astrea, G., Valle, M., Scuderi, F., Trucco, F., Natali, A., Magnano, G., Gazzerro, E., Minetti, C., Arca, M., Santorelli, F. M. & Bruno, C., Jan 4 2013, In : Biochemical and Biophysical Research Communications. 430, 1, p. 241-244 4 p.

Research output: Contribution to journalArticle

Muscular Diseases
Genes
Lipids
Mutation
Gene encoding
Interleukin 1 Receptor Antagonist Protein
Pericarditis
Interleukin-1 Receptors
Therapeutics
Steroids

The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis

Gattorno, M., Piccini, A., Lasigliè, D., Tassi, S., Brisca, G., Carta, S., Delfino, L., Ferlito, F., Pelagatti, M. A., Caroli, F., Buoncompagni, A., Viola, S., Loy, A., Sironi, M., Vecchi, A., Ravelli, A., Martini, A. & Rubartelli, A., May 2008, In : Arthritis and Rheumatism. 58, 5, p. 1505-1515 11 p.

Research output: Contribution to journalArticle

Juvenile Arthritis
Interleukin-1
Interleukin-18
Interleukin 1 Receptor Antagonist Protein
Therapeutics

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Fiorillo, C., Moro, F., Brisca, G., Astrea, G., Nesti, C., Bálint, Z., Olschewski, A., Meschini, M. C., Guelly, C., Auer-Grumbach, M., Battini, R., Pedemonte, M., Romano, A., Menchise, V., Biancheri, R., Santorelli, F. M. & Bruno, C., Aug 2012, In : Neurogenetics. 13, 3, p. 195-203 9 p.

Research output: Contribution to journalArticle

TRPV Cation Channels
Spinal Muscular Atrophy
Mutation
Bone and Bones
Ankyrin Repeat