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Professore ordinario di
genetica medica presso il Dipartimento di Biochimica, Biofisica e Patologia
generale della Seconda Università degli Studi di Napoli
e Associate Investigator del Telethon Institute of genetics and medicine
(TIGEM).
Nato a Napoli il 28 luglio 1960, laureato in Medicina e Chirurgia con plauso e dignità di pubblicazione della Tesi. Già ricercatore universitario
di patologia generale dal 1992 al 2000 e professore associato di patologia
generale dal 2000 al 2006.
E’ titolare
dell'insegnamento di genetica medica (settore
MED/03, 06/A1)
nel corso di laurea in Medicina e Chirurgia di Napoli e Caserta della Seconda Università degli Studi di Napoli. Ha incarichi nelle Scuole di Specializzazione di Pediatria, Patologia Clinica,
Microbiologia, Genetica Medica, Psichiatria ed
in sei Corsi di laurea
delle professioni sanitarie. E’ Coordinatore del Dottorato di Ricerca in Genetica Medica e docente della Scuola Europea di Medicina Molecolare (SEMM).
Nel 1982 inizia l’internato presso l'Istituto di Patologia Generale e Oncologia sotto la guida di Gianfredo Puca e continua dopo la laurea in Medicina, come borsista
AIRC, dedicandosi allo studio del meccanismo d’azione del recettore degli estrogeni. Dal 1989 al 1994
lavora come ospite all’Istituto Internazionale di Genetica e Biofisica (IIGB) del CNR di Napoli presso Edoardo Boncinelli prima e poi Antonio Simeone (biologia dello sviluppo, identificazione di fattori di trascrizione che regolano l’embriogenesi e la formazione del cervello). Nel 1992 forma un proprio gruppo di ricerca sulla genetica delle distrofie muscolari. Ha pubblicato
126 articoli su riviste internazionali, ricevendo un totale di oltre 5.900 citazioni, con h-index =
41, g-index =
75. Tra le ricerche di maggior rilievo, l’identificazione del delta-sarcoglicano e delle mutazioni che causano la distrofia muscolare dei cingoli (LGMD2F,
citato da 77 reviews) e l’identificazione del gene che causa la cardiomiopatia del criceto BIO14.6,
uno dei principali modelli sperimentali (citato da 41 reviews). E' responsabile del servizio di "Next
Generation Sequencing" presso il “Telethon Institute” di Napoli (TIGEM) diretto da Andrea Ballabio. E’ attualmente responsabile di progetti di ricerca sulle basi molecolari delle distrofie muscolari dei cingoli (LGMD) e sulla terapia genica delle sarcoglicanopatie condotti in sinergia tra TIGEM e Seconda Università di Napoli.
E’ inoltre responsabile presso il Tigem, della facility per il
Sequenziamento di Nuova Generazione (NGS) basato su piattaforma Illumina.
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Pubblicazioni
126: Di Fruscio G,
Garofalo A, Mutarelli M, Savarese M, Nigro V
Are all the previously reported genetic variants in limb girdle muscular
dystrophy genes pathogenic?
Eur J Hum Genet. 2015 Apr 22. doi: 10.1038/ejhg.2015.76.
PMID: 25898921
125: Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De
Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S,
Santoro L, Ricci E, Claes K, Politano L, Nigro V
Next generation sequencing on patients with LGMD and nonspecific
myopathies: Findings associated with ANO5 mutations
Neuromuscul Disord. 2015 Mar 30. pii: S0960-8966(15)00106-6. doi:
10.1016/j.nmd.2015.03.011.
PMID: 25891276
124: Maciąg A, Villa F, Ferrario A, Spinelli CC, Carrizzo A, Malovini A,
Torella A, Montenero C, Parisi A, Condorelli G, Vecchione C, Nigro V,
Montenero AS, Puca AA
Exome sequencing of a family with lone, autosomal dominant atrial
flutter identifies a rare variation in ABCB4 significantly enriched in
cases
BMC Genet. 2015 Feb 11;16:15. doi: 10.1186/s12863-015-0177-0.
PMID: 25888430
123: Perillo L, Monsurrò A, Bonci E, Torella A, Mutarelli M, Nigro V
Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism
J Dent Res. 2015 Apr;94(4):569-76. doi: 10.1177/0022034515572190.
PMID: 25691070
122: Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M,
Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri
HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A
Prevalence of anti-adeno-associated virus serotype 8 neutralizing
antibodies and arylsulfatase B cross-reactive immunologic material in
mucopolysaccharidosis VI patient candidates for a gene therapy trial
Hum Gene Ther. 2015 Mar;26(3):145-52. doi: 10.1089/hum.2014.109.
PMID: 25654180
121: Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella
A, Nigro V, Angelini C
Incomplete Penetrance in LGMD1F
Muscle Nerve. 2014 Dec 9. doi: 10.1002/mus.24539.
PMID: 25487718
120: Villa F, Maciąg A, Spinelli CC, Ferrario A, Carrizzo A, Parisi A,
Torella A, Montenero C, Condorelli G, Vecchione C, Nigro V, Montenero AS,
Puca AA.
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a
lone, autosomal dominant atrioventricular block
Immun Ageing. 2014 Nov 26;11(1):19. doi: 10.1186/s12979-014-0019-3.
PMID: 25469153
119: Savarese M, Di
Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP,
Bruno C, Nigro V
MotorPlex provides accurate variant detection across large muscle genes
both in single myopathic patients and in pools of DNA samples
Acta Neuropathol Commun. 2014 Sep 11;2:100. doi:
10.1186/s40478-014-0100-3.
PMID: 25214167
118: Fanin M, Savarese
M, Nascimbeni AC, Di Fruscio G, Pastorello E, Tasca E, Trevisan CP,
Nigro V, Angelini C
Dominant muscular dystrophy with a novel SYNE1 gene mutation
Muscle Nerve. 2014 Aug 5. doi: 10.1002/mus.24357. [Epub ahead of print]
No abstract available
PMID: 25091525
117: Nigro
V, Piluso G
Spectrum of muscular dystrophies associated with
sarcolemmal-protein genetic defects
Biochim Biophys Acta. 2014 Jul 30. pii:
S0925-4439(14)00243-9. doi: 10.1016/j.bbadis.2014.07.023.
PMID: 25086336
116:Fanin
M, Nascimbeni A, Savarese M, Papa V, Cenacchi G, Nigro V,
Angelini C
Familial Polyglucosan Body Myopathy with Unusual Phenotype
Neuropathol Appl Neurobiol. 2014 Jul 15. doi: 10.1111/nan.12171.
[Epub ahead of print]
PMID:25041762
115: Ferraro
MB, Savarese M, Di Fruscio G, Nigro V, Guarracino MR
Prediction of Rare Single-Nucleotide Causative Mutations for
Muscular Diseases in Pooled Next-Generation Sequencing
Experiments
J Comput Biol. 2014 Jul 16. [Epub ahead of print]
PMID:25029289
114: Nigro
V, Savarese M
Genetic basis of limb-girdle muscular dystrophies: the 2014
update
Acta Myol. 2014 May;33(1):1-12. Review
PMID:24843229
113: Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N,
Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C,
Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
A defect in the RNA-processing protein HNRPDL causes limb-girdle
muscular dystrophy 1G (LGMD1G)
Hum Mol Genet. 2014 Aug 1;23(15):4103-10
PMID:24647604
112: Savarese M,
Spinelli E, Gandolfo F, Lemma V, Di Fruscio G, Padoan R, Morescalchi F,
D'Agostino M, Savoldi G, Semeraro F, Nigro V, Bonatti S
Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in
TSPAN12 in a Cystic Fibrosis Infant
Ophthalmic Genet. 2014 Sep;35(3):184-6
PMID:23834558
111: Savarese M,
Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G,
Piluso G, Perrone L, del Giudice EM, Nigro V
Familial trisomy 6p in mother and daughter
Am J Med Genet A. 2013 Jul;161A(7):1675-81
PMID:23687068
110:Torella A, Fanin M,
Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M,
Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro
V
Next-generation sequencing identifies transportin 3 as the causative
gene for LGMD1F
PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536.
PMID:23667635
109:Peterle E, Fanin M,
Semplicini C, Padilla JJ, Nigro V, Angelini C
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
J Neurol. 2013 Aug;260(8):2033-41
PMID:23632945
108:Rotundo IL, Lancioni A, Savarese M, D'Orsi L, Iacomino M, Nigro G, Piluso G,
Auricchio A, Nigro V
Use of a lower dosage liver-detargeted AAV vector to prevent hamster
muscular dystrophy
Hum Gene Ther. 2013 Apr;24(4):424-30
PMID:23427808
107:Peluso I, Conte I,
Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S,
Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European
Retinal Disease Consortium, Simonelli F, Banfi S. Orphanet
The ADAMTS18 gene is responsible for autosomal recessive early onset
severe retinal dystrophy
J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16
PMID:23356391
106:Nigro V, Piluso G
Next generation sequencing (NGS) strategies for the genetic testing of
myopathies
Acta Myol. 2012 Dic;31(3):196-200
PMID:23620651
Full text
105: Savarese M, Piluso
G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A,
Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V
Enhancer chip: detecting human copy number variations in regulatory
elements
PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub
2012 Dec 20
PMID:23284961
104: Nigro V
Improving the course of muscular dystrophy?
Acta Myol. 2012 Oct;31(2):109
PMID:23097600
103: Licastro D,
Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D,
Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli
F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V
Molecular diagnosis of Usher syndrome: application of two different next
generation sequencing-based procedures
PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012
Aug 29
PMID:22952768
102:Bello L, Melacini
P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G,
Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E,
Angelini C, Tosatto SC, Pegoraro E
Eur J Hum Genet. 2012 May 2. doi: 10.1038/ejhg2012.71
PMID:22549409
Abstract
Full text
101: Angelini C,
Grisold W, Nigro V
Diagnosis by protein analysis of dysferlinopathy in two patients
mistaken as polymyositis
Acta Myol. 2011 Dec;30(3):185-7
PMID:22616201
Abstract
Full text
100: Lancioni A, Rotundo IL,
Kobayashi YM, D'Orsi L, Aurino S, Nigro G, Piluso G, Acampora D,
Cacciottolo M, Campbell KP, Nigro V
Combined deficiency of alpha and epsilon sarcoglycan disrupts the
cardiac dystrophin complex
Hum Mol Genet. 2011 Dec 1;20(23):4644-54
PMID:21890494
Abstract
Full text
99: Piluso G, Dionisi
M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T,
Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C,
Santorelli FM, Nigro V
Motor Chip: a Comparative Genomic Hybridization Microarray for
Copy-Number Mutations in 245 Neuromuscular Disorders
Clin Chem. 2011 Nov;57(11):1584-96
PMID:21896784
Abstract
98: Rotundo IL, Faraso
S, De Leonibus E, Nigro G, Vitiello C, Lancioni A, Di Napoli D, Castaldo
S, Russo V, Russo F, Piluso G, Auricchio A, Nigro V
Worsening of cardiomyopathy using deflazacort in an animal model rescued
by gene therapy
PLoS One. 2011;6(9):e24729.
PMID:21931833
Abstract
97: Nigro V, Aurino S, Piluso G.
Limb girdle muscular dystrophies: update on genetic diagnosis and
therapeutic approaches.
Curr Opin Neurol. 2011 Oct;24(5):429-36
PMID: 21825984
Abstract
Full Text
96: Cacciottolo M,
Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci
E, Piluso G, Angelini C, Nigro V
Muscular dystrophy with marked Dysferlin deficiency is consistently
caused by primary dysferlin gene mutations
Eur J Hum Genet. 2011 Sep;19(9):974-80.
PMID: 21522182
Abstract
95: Roncarati R,
Latronico MV, Musumeci B, Aurino S, Torella A, Bang ML, Jotti GS, Puca
AA, Volpe M, Nigro V, Autore C, Condorelli G.
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac
myosin binding protein genes in italian patients with hypertrophic
cardiomyopathy
J Cell Physiol. 2011 Nov;226(11):2894-900
PMID: 21302287
Abstract
94: Cacciottolo M,
Belcastro V, Laval S, Bushby K, Di Bernardo D, Nigro V
Reverse-engineering gene network identifies new dysferlin interacting
proteins
J Biol Chem. 2011 Feb 18;286(7):5404-13
PMID: 21119217
Abstract
Full text
93: Tammaro A, Di
Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, Cannavo A,
Spagnuolo M, Piluso G, Aurino S, Nigro V
Novel missense mutations and unexpected multiple changes of RYR1 gene in
75 malignant hyperthermia families
Clin Genet. 2011 May;79(5):438-47
PMID: 20681998
Abstract
92: Bonnal RJ,
Severgnini M, Castaldi A, Bordoni R, Iacono M, Trimarco A, Torella A,
Piluso G, Aurino S, Condorelli G, De Bellis G, Nigro V
Reliable resequencing of the human dystrophin locus by universal long
polymerase chain reaction and massive pyrosequencing
Anal Biochem. 2010 Nov 15;406(2):176-84
PMID: 20670611
Abstract
91: Piluso G, Aurino S,
Cacciottolo M, Del Vecchio Blanco F, Lancioni A, Rotundo IL, Torella A,
Nigro V
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies
Acta Myol. 2010 July; 29(1): 1–20
PMCID: PMC2954584
Abstract
Full text
PDF
90: Santoro L, Nolano
M, Faraso S, Fiorillo C, Vitiello C, Provitera V, Aurino S, Nigro V
Perioral skin biopsy to study skeletal muscle protein expression
Muscle Nerve. 2010 Feb 16;41(3):392-398
PMID: 20162678
Abstract
89: Nigro G, Russo V,
Ventriglia VM, Cioppa ND, Palladino A, Nigro V, Calabrò R, Nigro G,
Politano L
Early onset of cardiomyopathy and primary prevention of sudden death in
X-linked Emery-Dreifuss muscular dystrophy
Neuromuscul Disord. 2010 Mar;20(3):174-177
PMID: 20149661
Abstract
88: Torella A, Trimarco A, Del Vecchio Blanco F, Cuomo A, Aurino S,
Piluso G, Minetti C, Politano L, Nigro V
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored
DNA Samples by Combinatorial Denaturing High-Performance Liquid
Chromatography
J Mol Diagn. 2010 Jan;12(1):65-73.
PMID: 19959795
Abstract
87: Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V,
Angelini C
Frequency of LGMD gene mutations in Italian patients with distinct
clinical phenotypes
Neurology. 2009 Apr 21;72(16):1432-5.
PMID: 19380703
Abstract
86: Vitiello C, Faraso S, Sorrentino NC, Di Salvo G, Nusco E, Nigro G,
Cutillo L, Calabrò R, Auricchio A, Nigro V
Disease Rescue and Increased Lifespan in a Model of Cardiomyopathy and
Muscular Dystrophy by Combined AAV Treatments
PLoS ONE 2009 4(3): e5051. doi:10.1371/journal.pone.0005051
PMID: 19333401
Abstract
PDF(full text)
85: Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico
M, Aurino S, Schwartz CE, Neri G, Nigro V
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family
Am J Hum Genet. 2009 Feb;84(2):162-77.
PMID: 19200522
Abstract
PDF(full
text)
84: Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M,
Totaro A, Belsito A, Di Vicino U, Nigro V
Candidate-gene testing for orphan limb-girdle muscular dystrophies
Acta Myol. 2008 Dec;27:90-7.
PMID: 19472918
Abstract
PDF(full
text)
83: Assereto S, Mastrototaro M, Stringara S, Gazzerro E, Broda P,
Nicchia GP, Svelto M, Bruno C, Nigro V, Lisanti MP, Frigeri A, Minetti C
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies
and dysferlinopathies
Cell Cycle. 2008 Jul 15;7(14):2199-207.
PMID: 18641458
Abstract
82: Trimarco A, Torella A, Piluso G,Ventriglia VM, Politano L, Nigro V
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to
85% of mutations in the dystrophin gene.
Clin Chem. 2008 Jun;54(6):973-81. Citations
8
PMID: 18403565
Abstract
PDF(full text)
81: Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L,
Nigro V
Mutations that impair interaction properties of TRIM32 associated with
limb-girdle muscular dystrophy 2H
Hum Mutat. 2008 Feb;29(2):240-7.
PMID:
17994549
Abstract
PDF(full text)
80: Gouveia T, Kossugue PM, Paim JF, Zatz M, Anderson LVB, Nigro V,
Vainzof M
A new evidence for the maintenance of the sarcoglycan complex in muscle
sarcolemma in spite of the primary absence of δ-SG protein
J Mol Med. 2007 Apr;85(4):415-20.
PMID:
17265058
Abstract
PDF(full text)
79: Aurino S, Nigro V
Readthrough strategies for stop codons in Duchenne muscular dystrophy
Acta Myol. 2006 Jun;25(1):5-12.
PMID: 17039975 Abstract
PDF(full text) 78: Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy
J Neurol. 2006 Jul;253(7):869-74.
PMID: 16715201 Abstract
PDF(full text)
77: Lanzillo R, Aurino S, Fanin M, Aguennoz M, Vitale F, Fiorillo C, Del Giudice E, Nigro V, Santoro L.
Early onset calpainopathy with normal non-functional calpain 3 level.
Dev Med Child Neurol. 2006 Apr;48(4):304-6.
PMID: 16542520 Abstract
76: Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcoren Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P.
Calpain-3 mutations in Turkey.
Eur J Pediatr. 2006 Jan 13;:1-6
PMID: 16411092 Abstract PDF(full text)
75: Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI,
Nigro G, Angelini C, Nigro V
The extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
J Med Genet. 2005 Sep;42:686-93
PMID: 16141003 Abstract PDF(full text)
74: Perrotta S, Borriello A, Scaloni A, De Franceschi L, Brunati AM, Turrini F, Nigro V, Miraglia Del Giudice E, Nobili B, Conte ML, Rossi F, Iolascon A, Donella-Deana A, Zappia V, Poggi V, Anong W, Low P, Mohandas N, Della Ragione F.
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function.
Blood. 2005 Dec 15;106(13):4359-66
PMID: 16118313 Abstract PDF(full text)
73: Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R.
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
J Neurol. 2005 May;252(5):538-47
PMID: 15726252 Abstract PDF(full text)
72: Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM
delta-Sarcoglycan is required for early zebrafish muscle organization.
Exp Cell Res. 2005 Mar 10;304(1):105-15
PMID: 15707578 Abstract
71: Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni
F
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Neuromuscul Disord. 2005 Feb;15(2):164-71.
PMID: 15694138 Abstract
70: Fulizio L, Chiara Nascimbeni A, Fanin
M, Piluso G, Politano L, Nigro V, Angelini C
Molecular and muscle pathology in a series of caveolinopathy patients.
Hum Mutat. 2005 Jan;25(1):82-89.
PMID: 15580566
Abstract PDF(full text) 69: Balci B, Wilichowski E, Haliloglu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloglu H, Bonnemann C, Dincer P
Beta-sarcoglycan gene mutations in Turkey.
Acta Myol. 2004 Dec;23(3):154-8.
PMID: 15938573
68: Lacerra G, Fiorito M, Musollino G, Noce FD, Esposito M, Nigro V, Gaudiano C, Carestia C.
Sequence variations of the alpha-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE.
Hum Mutat. 2004 Oct;24(4):338-49
PMID: 15365991
Abstract PDF(full text)
67: Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C.
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
Hum Mutat. 2004 Jul;24(1):52-62.
PMID: 15221789 Abstract PDF(full text)
66: Nigro V.
Molecular bases of autosomal recessive limb-girdle muscular dystrophies.
Acta Myol. 2003 Sep;22(2):35-42. Review.
PMID: 14959561 Abstract PDF(full text)
65: de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cassia Pavanello R, Vainzof M, Nigro V, Zatz M.
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
Eur J Hum Genet. 2003 Dec;11(12):923-30.
PMID: 14647208 Abstract Word(full text)
64: Fischer D, Aurino S, Nigro V, Schroder R.
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
Ann Neurol. 2003 Nov;54(5):674-8.
PMID: 14595658 Abstract PDF(full text)
63: Politano L, Nigro G, Nigro V, Piluso G, Papparella S, Paciello O, Comi LI.
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.
Acta Myol. 2003 May;22(1):15-21.
PMID: 12966700 Abstract
62: Tammaro A, Bracco A, Cozzolino S, Esposito M, Di Martino A, Savoia G, Zeuli
L, Piluso G, Aurino S, Nigro V
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
Clin Chem. 2003 May;49(5):761-8.
PMID: 12709367 Abstract PDF(full text)
61: Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini
P, Nigro V
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Hum Genet. 2003 Feb;112(2):124-30.
PMID: 12522552 Abstract
60: de Paula F, Vainzof M, Passos-Bueno MR, de Cassia M Pavanello R, Matioli SR, V B Anderson L, Nigro V, Zatz M.
Clinical variability in calpainopathy: what makes the difference?
Eur J Hum Genet. 2002 Dec;10(12):825-32.
PMID: 12461690 Abstract
59: Nobile C, Toffolatti L, Rizzi F, Simionati B, Nigro V, Cardazzo B, Patarnello T, Valle G, Danieli GA.
Analysis of 22 deletion breakpoints in dystrophin intron 49.
Hum Genet. 2002 May;110(5):418-21.
PMID: 12073011 Abstract
58: Miraglia Del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P, Cozzolino D, Scafato D, Perrone L.
Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.
Int J Obes Relat Metab Disord. 2002 May;26(5):647-51.
PMID: 12032748 Abstract
57: Ikeda Y, Gu Y, Iwanaga Y, Hoshijima M, Oh SS, Giordano FJ, Chen J, Nigro V, Peterson KL, Chien KR, Ross J Jr.
Restoration of deficient membrane proteins in the cardiomyopathic hamster by in vivo cardiac gene transfer.
Circulation. 2002 Jan 29;105(4):502-8.
PMID: 11815435 Abstract PDF(full text)
56: Politano L, Nigro V, Passamano L, Petretta V, Comi LI, Papparella S, Nigro G, Rambaldi PF, Raia P, Pini A, Mora M, Giugliano MA, Esposito MG, Nigro G.
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies.
Neuromuscul Disord. 2001 Mar;11(2):178-85.
PMID: 11257475 Abstract
PDF(full text)
55: Dincer P, Bonnemann CG, Erdir Aker O, Akcoren Z, Nigro V, Kunkel LM, Topalolu H.
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Neuromuscul Disord. 2000 Jun;10(4-5):247-50.
PMID: 10838250
Abstract
PDF(full text)
54: Date M, Otsu K, Nishida K, Toyofuku T, Matsumura Y, Morita T, Hirotani S, Okazaki Y, Hayashizaki Y, Nigro V, Kuzuya T, Tada M, Hori M.
Single-strand conformation polymorphism analysis on the delta-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy.
Am J Cardiol. 2000 Jun 1;85(11):1315-8.
PMID: 10831946
Abstract
53: Molinari AM, Bontempo P, Schiavone EM, Tortora V, Verdicchio MA, Napolitano M, Nola E, Moncharmont B, Medici N, Nigro V, Armetta I, Abbondanza C, Puca GA
Estradiol induces functional inactivation of p53 by intracellular redistribution.
Cancer Res. 2000 May 15;60(10):2594-7.
PMID: 10825127 Abstract
52: Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.
J Biol Chem. 2000 May 26;275(21):15851-60.
PMID: 10747910 Abstract
51: Abbondanza C, Medici N, Nigro V, Rossi V, Gallo L, Piluso G, Belsito A, Roscigno A, Bontempo P, Puca AA, Molinari AM, Moncharmont B, Puca GA
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action.
Proc Natl Acad
Sci U S A. 2000 Mar 28;97(7):3130-5.
PMID: 10706618 Abstract PDF(full text)
50: Politano L, Passamano, L, Petretta, VR, Nigro, V, Papparella, S, Nigro, G, Santangelo, L, Nigro, G
Familial dilated cardiomyopathy associated with the typical dystrophin BMD mutation: Report on two additional cases.
Acta Myol 1999 Dec;3:229-36.
49: Belsito, A, Politano, L, Piluso, G, Comi, LI, Nigro, V
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications.
Acta Myol 1999 Dec;3:221-3.
48: Ricci, E, Galluzzi, G, Mela, J, Nigro, V, Merico, B, Damiani, A, Giglio, V, Tonali, P
Diagnostic aspects in sarcoglycanopathies.
Acta Myol 1999;3:11-6. 47: Politano, L, Galluzzi, G, Felicetti, L, Tedeschi, S, Fortuna, R, Passamano, L, Esposito, MG, Nigro, V
Successful combined prenatal diagnosis for Duchenne and facio-scapulo- humeral dystrophies.
Acta Myol 1999;3:100.
46: Nigro, V, Comi, LI, Politano, L
Clinical and genetic aspects of sarcoglycanopathies.
Acta Myol 1999;3:51-3.
45: Medici N, Abbondanza C, Nigro V, Rossi V, Piluso G, Belsito A, Gallo L, Roscigno A, Bontempo P, Puca AA, Molinari AM, Moncharmont B, Puca GA
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein).
Biochem Biophys Res Commun. 1999 Nov 2;264(3):983-9.
PMID: 10544042 Abstract
44: Sampaolo S, Puca AA, Nigro V, Cappa V, Sannino V, Sanges G, Bonavita V, Di Iorio G
Lack of sodium channel mutation in an Italian family with paramyotonia congenita.
Neurology. 1999 Oct 22;53(7):1549-55.
PMID: 10534266 Abstract
43: Rivier F, Robert A, Hugon G, Bonet-Kerrache A, Nigro V, Fehrentz JA, Martinez J, Mornet D
Dystrophin and utrophin complexed with different associated proteins in cardiac Purkinje fibres.
Histochem J. 1999 Jul;31(7):425-32.
PMID: 10475570 Abstract
42: Perrotta S, Polito F, Cone ML, Nobili B, Cutillo S, Nigro V, Iolascon A, Amendola G
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio.
Blood. 1999 Mar 15;93(6):2131-2.
PMID: 10189204 Full text 41: Nigro V, Piluso G, Belsito A, Puca AA, Politano L
Gene redundancies in the dystrophin-associated protein complex.
Acta Myol 1998,2:29-31.
40: Politano, L, Nigro, V, Passamano, L, Petretta, V, Esposito, Mg, Papparella, S, Ricci, E, (), Nigro, G
Clinical and genetic findings in sarcoglycanopathies
Acta Myol
1998;2:33-40.
39: Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
J Med Genet. 1998 Nov;35(11):951-3.
PMID: 9832045 Abstract
38: Mone CM, Nigro V, Rotondi M, Del Buono A, Mazziotti G, Riondino M, Sinisi AM, Ghizzoni L, Phillips JA 3rd, Bellastella A, Carella C
An improved polymerase chain reaction (PCR) protocol for unambigous detection of growth hormone gene deletions.
J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):563-8.
PMID: 9777578 Abstract
37: Speer MC, Vance JM, Lennon-Graham F, Stajich JM, Viles KD, Gilchrist JM, Nigro V, McMichael R, Chutkow JG, Bartoloni L, Horrigan SK, Westbrook CA, Pericak-Vance MA
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.
Hum Hered. 1998 Jul-Aug;48(4):179-84.
PMID: 9694248 Abstract
36: Abbondanza C, Rossi V, Roscigno A, Gallo L, Belsito A, Piluso G, Medici N, Nigro V, Molinari AM, Moncharmont B, Puca GA.
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell.
J Cell Biol. 1998 Jun
15;141(6):1301-10.
PMID: 9628887 Abstract
35: Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B.
Identification and characterization of a novel member of the dystrobrevin gene family.
FEBS Lett. 1998 Mar 20;425(1):7-13. Citations
27
PMID: 9540997 Abstract
34: Nobile C, Marchi J, Nigro V, Roberts RG, Danieli GA.
Exon-intron organization of the human dystrophin gene.
Genomics. 1997 Oct
15;45(2):421-4.
PMID: 9344670 Abstract
33: Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D.
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
Ann Neurol. 1997 Aug;42(2):249-53.
PMID: 9266737 Abstract
32: Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, Nigro G, Ventura C, Abbondanza C, Molinari AM, Acampora D, Nishimura M, Hayashizaki Y, Puca GA.
Identification of the Syrian hamster cardiomyopathy gene.
Hum Mol Genet. 1997 Apr;6(4):601-7.
PMID: 9097966 Abstract PDF (full text) Lettera di Homburger
31: Yoshida M, Noguchi S, Wakabayashi E, Piluso G, Belsito A, Nigro V, Ozawa E.
The fourth component of the sarcoglycan complex.
FEBS Lett. 1997 Feb
17;403(2):143-8.
PMID: 9042955 Abstract
30: Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M.
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Hum Mol Genet. 1996 Dec;5(12):1963-9.
PMID: 8968750 Abstract
29: Micali A, Medici N, Sottile A, Venza M, Venza I, Nigro V, Puca GA, Teti D.
Prostaglandin E2 induction of binding activity to CRE and AP-2 elements in human T lymphocytes.
Cell Immunol. 1996 Nov 25;174(1):99-105.
PMID: 8929459 Abstract
28: Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M.
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
Nat Genet. 1996 Oct;14(2):195-8.
PMID: 8841194 Abstract
27: Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA.
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
Hum Mol Genet. 1996 Aug;5(8):1179-86.
PMID: 8842738 Abstract PDF (full text)
26: Politano L, Nigro V, Nigro G, Petretta VR, Passamano L, Papparella S, Di Somma S, Comi LI.
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies.
JAMA.
1996 May 1;275(17):1335-8.
PMID: 8614119 Abstract
25: Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E.
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
Nat Genet. 1996 Jan;12(1):94-6.
PMID: 8528262 Abstract
24: Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M.
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
Hum Mol Genet. 1995 Oct;4(10):2003-4.
PMID: 8595433 No abstract
23: Simeone A, Avantaggiato V, Moroni MC, Mavilio F, Arra C, Cotelli F, Nigro V, Acampora D.
Retinoic acid induces stage-specific antero-posterior transformation of rostral central nervous system.
Mech Dev. 1995 May;51(1):83-98.
PMID: 7669695 Abstract
22: Nigro G, Comi LI, Politano L, Limongelli FM, Nigro V, De Rimini ML, Giugliano MA, Petretta VR, Passamano L, Restucci B, et al.
Evaluation of the cardiomyopathy in Becker muscular dystrophy.
Muscle Nerve. 1995 Mar;18(3):283-91.
PMID: 7870105 Abstract
21: Nigro G, Comi LI, Politano L, Nigro V.
Dilated cardiomyopathy of muscular dystrophy: a multifaceted approach to management.
Semin
Neurol. 1995 Mar;15(1):90-2.
PMID: 7638465 Abstract
20: Nigro V, Nigro G, Esposito MG, Comi LI, Molinari AM, Puca GA, Politano L.
Novel small mutations along the DMD/BMD gene associated with different phenotypes.
Hum Mol Genet. 1994 Oct;3(10):1907-8.
PMID: 7849724 Abstract
19: Nigro G, Politano L, Nigro V, Petretta VR, Comi LI.
Mutation of dystrophin gene and cardiomyopathy.
Neuromuscul Disord. 1994 Jul;4(4):371-9.
PMID: 7981594 Abstract
18: Simeone A, D'Apice MR, Nigro V, Casanova J, Graziani F, Acampora D, Avantaggiato V.
Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and Drosophila.
Neuron. 1994 Jul;13(1):83-101.
PMID: 7913821 Abstract
17: Nigro V, Napolitano M, Abbondanza C, Medici N, Puca AA, Schiavulli M, Armetta I, Moncharmont B, Puca GA, Molinari AM.
A novel p53 mutant in human breast cancer revealed by multiple SSCP analysis.
Cancer Lett. 1994 Apr 29;79(1):73-5.
PMID: 8187056 Abstract
16: Mioni F, Danieli GA, Cao A, Cau M, Colonna-Romano S, Covone AE, De Leonardis P, De Leo R, Esposito MG, Felicetti L, Nigro V, Politano L,
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study.
Gene Geogr. 1994 Apr;8(1):35-44.
PMID: 7619774 Abstract
15 : Simeone A, Acampora D, Mallamaci A, Stornaiuolo A, D'Apice MR, Nigro V, Boncinelli E.
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo.
EMBO J. 1993 Jul;12(7):2735-47.
PMID: 8101484
Abstract
14: Abbondanza C, de Falco A, Nigro V, Medici N, Armetta I, Molinari AM, Moncharmont B, Puca GA.
Characterization and epitope mapping of a new panel of monoclonal antibodies to estradiol receptor.
Steroids. 1993 Jan;58(1):4-12.
PMID: 7679226
Abstract
13: Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA.
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP.
Hum Mol Genet. 1992 Oct;1(7):517-20.
PMID: 1307253 Abstract
12: Nigro V, Molinari AM, Armetta I, de Falco A, Abbondanza C, Medici N, Puca GA.
Purified estrogen receptor enhances in vitro transcription.
Biochem Biophys Res Commun. 1992 Jul 31;186(2):803-10.
PMID: 1497666 Abstract
11: Molinari AM, Abbondanza C, Armetta I, Medici N, Minucci S, Moncharmont B, Nigro V, Puca GA.
Proteolytic activity of the purified hormone-binding subunit in the estrogen receptor.
Proc Natl Acad Sci U S A. 1991 May 15;88(10):4463-7.
PMID: 1709742 Abstract
10: Medici N, Nigro V, Abbondanza C, Moncharmont B, Molinari AM, Puca GA.
In vitro binding of the purified hormone-binding subunit of the estrogen receptor to oligonucleotides containing natural or modified sequences of an estrogen-responsive element.
Mol Endocrinol. 1991 Apr;5(4):555-63.
PMID: 1922088 Abstract
9: Simeone A, Acampora D, Nigro V, Faiella A, D'Esposito M, Stornaiuolo A, Mavilio F, Boncinelli E.
Differential regulation by retinoic acid of the homeobox genes of the four HOX loci in human embryonal carcinoma cells.
Mech Dev. 1991 Mar;33(3):215-27.
PMID: 1677812 Abstract
8: Stornaiuolo A, Acampora D, Pannese M, D'Esposito M, Morelli F, Migliaccio E, Rambaldi M, Faiella A, Nigro V, Simeone A, et al.
Human HOX genes are differentially activated by retinoic acid in embryonal carcinoma cells according to their position within the four loci.
Cell Differ Dev. 1990 Aug;31(2):119-27.
PMID: 1977502 Abstract
7: Nigro V, Medici N, Abbondanza C, Minucci S, Moncharmont B, Molinari AM, Puca GA.
An aprotinin binding site localized in the hormone binding domain of the estrogen receptor from calf uterus.
Biochem Biophys Res Commun. 1990 Jul 31;170(2):930-6.
PMID: 1696480 Abstract
6: Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E.
The human HOX gene family.
Nucleic Acids Res. 1989 Dec 25;17(24):10385-402.
PMID: 2574852 Abstract
5: Nigro V, Medici N, Abbondanza C, Minucci S, Molinari AM, Puca GA.
Aprotinin inhibits the hormone binding of the estrogen receptor from calf uterus.
Biochem Biophys Res Commun. 1989 Nov 15;164(3):1206-11.
PMID: 2480113 Abstract
4: Medici N, Minucci S, Nigro V, Abbondanza C, Armetta I, Molinari AM, Puca GA.
Metal binding sites of the estradiol receptor from calf uterus and their possible role in the regulation of receptor function.
Biochemistry. 1989 Jan 10;28(1):212-9.
PMID: 2706244 Abstract
3: Puca GA, Abbondanza C, Nigro V, Armetta I, Medici N, Molinari AM.
Estradiol receptor has proteolytic activity that is responsible for its own transformation.
Proc Natl Acad Sci U S A. 1986 Aug;83(15):5367-71.
PMID: 2426695 Abstract
2: Puca GA, Medici N, Armetta I, Nigro V, Moncharmont B, Molinari AM.
Interaction between estrogen receptor and subcellular structures of target cells: nuclear localization of unoccupied receptor and its modification induced by estradiol.
Ann N Y Acad Sci. 1986;464:168-89. Review.
PMID: 3524348 Abstract
1: Molinari AM, Medici N, Armetta I, Nigro V, Moncharmont B, Puca GA.
Particulate nature of the unoccupied uterine estrogen receptor.
Biochem Biophys Res Commun. 1985 Apr 30;128(2):634-42.
PMID: 3994717
Abstract
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Selected abstracts
1. L. Politano, V.M. Ventriglia, A. Palladino, G.
Piluso, L. Passamano, V. Nigro, V.R. Petretta, L.I. Comi and G. Nigro.
Mutations in the lamin A/C gene: An emergent cause of
fatal arrhythmias in congenital muscular dystrophies.
Neuromuscular Disorders, Volume 16, Issues 9-10, October 2006,
Abstract G.P.4.03 Pages 675-676
2. A. Palladino, V.M. Ventriglia, L. Passamano, S.
Aurino, R. Russo, F. d’Amico, V.R. Petretta, G. Piluso, L.I. Comi, V.
Nigro et al.
Cardiac and respiratory involvement in autosomal
recessive limb-girdle muscular dystrophies.
Neuromuscular Disorders, Volume 16, Issues 9-10,
October 2006
Abstract P.P.6 02, Page 694
3. C. Vitiello, A. Auricchio, S. Faraso, N.
Sorrentino, D. Di Napoli, S. Castaldo, E. Nusco, S. Aurino, V. Saccone,
G. Piluso and V. Nigro.
Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6
hamsters by AAV.
Neuromuscular Disorders, Volume 16, Issues 9-10,
October 2006,
Abstract T.O.6 Page 724
4. L. Politano, G. Nigro, L.I.
Comi and V. Nigro.
Discordant clinical outcome in patients with limb girdle muscular
dystrophy 2C showing the same deletion pattern.
Neuromuscular Disorders, Volume 7, Issues 6-7, September 1997, Abstract
Page 440
5. L. Politano and V. Nigro.
Analysis of muscular dystrophies gene mutations in Southern Italy.
Neuromuscular Disorders, Volume 6, Issue 2, March 1996,
Abstract Page S12
6. C. Abbondanza , A. de Falco , V. Nigro , B.
Moncharmont , N. Medici , A. M. Molinari and G. A. Puca.
Preparation and preliminary characterization of new
monoclonal antibodies versus estradiol receptor.
European Journal of Cancer and Clinical Oncology, Volume 27, Supplement
3, 1991, Abstract Page S71
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PAGINE VISITATE
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