Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 22

1.

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 DM, Savasta S, Grosso S, Midulla F, Falsaperla R, Verrotti A, Bozzola E, Vassia C, Da Dalt L, Maggiore R, Masi S, Maltoni L, Foiadelli T, Rossetti A, Greco C, Marino S, Di Paolantonio C, Papetti L, Urbino AF, Rossi R, Raucci U.

Arch Dis Child. 2019 Aug;104(8):768-774. doi: 10.1136/archdischild-2018-315487. Epub 2019 Apr 4.

PMID:
30948362
2.

Detection of early nocturnal hypoventilation in neuromuscular disorders.

Trucco F, Pedemonte M, Fiorillo C, Tan HL, Carlucci A, Brisca G, Tacchetti P, Bruno C, Minetti C.

J Int Med Res. 2018 Mar;46(3):1153-1161. doi: 10.1177/0300060517728857. Epub 2017 Dec 6.

3.

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 NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
4.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C.

JIMD Rep. 2018;38:23-31. doi: 10.1007/8904_2017_25. Epub 2017 Apr 30.

5.

Respiratory pattern in a FSDH paediatric population.

Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C.

Respir Med. 2017 May;126:132. doi: 10.1016/j.rmed.2017.03.023. Epub 2017 Mar 29. No abstract available.

6.

Respiratory pattern in a FSHD pediatric population.

Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C.

Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22.

7.

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 GL, 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 FM, Bruno C; Italian Network on Congenital Myopathies.

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

8.

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 FM, Bruno C, Rossi A, Minetti C.

Eur J Neurol. 2016 Apr;23(4):e19-21. doi: 10.1111/ene.12914. No abstract available.

PMID:
27000979
9.

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. 2016 Jan 5;6(1):e007798. doi: 10.1136/bmjopen-2015-007798.

10.

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 FM, Cioni G, Politano L, Chilosi AM, Battini R.

Res Dev Disabil. 2015 Oct-Nov;45-46:168-77. doi: 10.1016/j.ridd.2015.07.025. Epub 2015 Aug 6.

PMID:
26255617
11.

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.

Eur J Paediatr Neurol. 2015 Sep;19(5):533-6. doi: 10.1016/j.ejpn.2015.04.002. Epub 2015 Apr 30.

PMID:
25978941
12.

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.

J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10.

PMID:
25957634
13.

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 FM, Bruno C.

Biochem Biophys Res Commun. 2015 Mar 13;458(3):601-604. doi: 10.1016/j.bbrc.2015.01.157. Epub 2015 Feb 11. Review.

PMID:
25680467
14.

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 FM, Vallee R.

Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3.

15.

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 FM, Bruno C.

Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9.

PMID:
23146629
16.

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 MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

PMID:
22526352
17.

Muscle MRI in TRPV4-related congenital distal SMA.

Astrea G, Brisca G, Fiorillo C, Valle M, Tosetti M, Bruno C, Santorelli FM, Battini R.

Neurology. 2012 Jan 31;78(5):364-5. doi: 10.1212/WNL.0b013e318245295a. No abstract available.

PMID:
22291064
18.

Coxarthritis as the presenting symptom of Gaucher disease type 1.

Brisca G, Di Rocco M, Picco P, Damasio MB, Martini A.

Arthritis. 2011;2011:361279. doi: 10.1155/2011/361279. Epub 2011 Mar 30.

19.

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM.

Biochem Biophys Res Commun. 2011 Sep 9;412(4):518-21. doi: 10.1016/j.bbrc.2011.06.155. Epub 2011 Jun 29.

PMID:
21741368
20.

Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?

Picco P, Brisca G, Traverso F, Loy A, Gattorno M, Martini A.

Arthritis Rheum. 2009 Jan;60(1):264-8. doi: 10.1002/art.24174.

21.

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 MA, Caroli F, Buoncompagni A, Viola S, Loy A, Sironi M, Vecchi A, Ravelli A, Martini A, Rubartelli A.

Arthritis Rheum. 2008 May;58(5):1505-15. doi: 10.1002/art.23437.

22.

Diagnosis and management of autoinflammatory diseases in childhood.

Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A.

J Clin Immunol. 2008 May;28 Suppl 1:S73-83. doi: 10.1007/s10875-008-9178-3. Epub 2008 Mar 27. Review.

PMID:
18368292

Supplemental Content

Loading ...
Support Center