• 611 Citations
  • 10 h-Index
20082019
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Research Output 2008 2019

  • 611 Citations
  • 10 h-Index
  • 33 Article
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Article
2019

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., Apr 4 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Ataxia
Multicenter Studies
Hospital Emergency Service
Pediatrics
Pathology
2018

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

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

2017
12 Citations (Scopus)

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

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

2016

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

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
24 Citations (Scopus)

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

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

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
5 Citations (Scopus)

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
2015
26 Citations (Scopus)

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
9 Citations (Scopus)

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
8 Citations (Scopus)

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
5 Citations (Scopus)

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
2014
46 Citations (Scopus)

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
2013
24 Citations (Scopus)

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
2012
14 Citations (Scopus)

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

17 Citations (Scopus)

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
2011
5 Citations (Scopus)
RNA, Transfer, Asn
Mitochondrial Myopathies
Gene transfer
Muscle
Muscles
2009
93 Citations (Scopus)
Interleukin 1 Receptor Antagonist Protein
Pericarditis
Interleukin-1 Receptors
Therapeutics
Steroids
2008
1 Citation (Scopus)

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
63 Citations (Scopus)

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
259 Citations (Scopus)

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