Works by Giuffrè, Mario

Results: 80

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3704, doi. 10.3390/jcm14113704

By:

Serra, Gregorio;
Notarbartolo, Veronica;
Antona, Vincenzo;
Cacace, Caterina;
Di Pace, Maria Rita;
Morreale, Daniela Mariarosa;
Pensabene, Marco;
Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Sergio, Maria;
Valenti, Giuseppina;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations.

Published in:

Journal of Paediatrics & Child Health, 2020, v. 56, n. 8, p. 1315, doi. 10.1111/jpc.1_14743

By:

Piro, Ettore;
Schierz, Ingrid AM;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations.

Published in:

2020

By:

Piro, Ettore;
Schierz, Ingrid AM;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

journal article

MRSA infection in the neonatal intensive care unit.

Published in:

Expert Review of Anti-infective Therapy, 2013, v. 11, n. 5, p. 499, doi. 10.1586/ERI.13.28

By:

Giuffrè, Mario;
Bonura, Celestino;
Cipolla, Domenico;
Mammina, Caterina

Publication type:

Article

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01232-7

By:

Serra, Gregorio;
Antona, Vincenzo;
Giuffrè, Mario;
Piro, Ettore;
Salerno, Sergio;
Schierz, Ingrid Anne Mandy;
Corsello, Giovanni

Publication type:

Article

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01218-5

By:

Schierz, Ingrid Anne Mandy;
Giuffrè, Mario;
Cimador, Marcello;
D'Alessandro, Maria Michela;
Serra, Gregorio;
Favata, Federico;
Antona, Vincenzo;
Piro, Ettore;
Corsello, Giovanni

Publication type:

Article

The social role of pediatrics in the past and present times.

Published in:

2021

By:

Serra, Gregorio;
Giuffrè, Mario;
Piro, Ettore;
Corsello, Giovanni

Publication type:

Letter

Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01180-8

By:

Savarino, Giovanni;
Carta, Maurizio;
Cimador, Marcello;
Corsello, Antonio;
Giuffrè, Mario;
Schierz, Ingrid Anne Mandy;
Serra, Gregorio;
Corsello, Giovanni

Publication type:

Article

Analysis of risk and prognostic factors in a population of pediatric patients hospitalized for acute malnutrition at the Chiulo hospital, Angola.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01140-2

By:

Tripoli, Federica Maria;
Accomando, Salvatore;
La Placa, Simona;
Pietravalle, Andrea;
Putoto, Giovanni;
Corsello, Giovanni;
Giuffrè, Mario

Publication type:

Article

Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01102-8

By:

Serra, Gregorio;
Lo Scalzo, Lucia;
Giuffrè, Mario;
Ferrara, Pietro;
Corsello, Giovanni

Publication type:

Article

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01108-2

By:

Serra, Gregorio;
Memo, Luigi;
Antona, Vincenzo;
Corsello, Giovanni;
Favero, Valentina;
Lago, Paola;
Giuffrè, Mario

Publication type:

Article

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00922-4

By:

Serra, Gregorio;
Corsello, Giovanni;
Antona, Vincenzo;
D'Alessandro, Maria Michela;
Cassata, Nicola;
Cimador, Marcello;
Giuffrè, Mario;
Schierz, Ingrid Anne Mandy;
Piro, Ettore

Publication type:

Article

Candida thrombophlebitis in children: a systematic review of the literature.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00913-5

By:

Colomba, Claudia;
Campa, Luigi;
Siracusa, Lucia;
Giordano, Salvatore;
Vella, Maria C.;
Corsello, Giovanni;
Giuffrè, Mario;
Cascio, Antonio

Publication type:

Article

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00903-7

By:

Piro, Ettore;
Serra, Gregorio;
Antona, Vincenzo;
Giuffrè, Mario;
Giorgio, Elisa;
Sirchia, Fabio;
Schierz, Ingrid Anne Mandy;
Brusco, Alfredo;
Corsello, Giovanni

Publication type:

Article

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00902-8

By:

Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Antona, Vincenzo;
Pappalardo, Maria Pia;
Giuffrè, Mario;
Serra, Gregorio;
Corsello, Giovanni

Publication type:

Article

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00901-9

By:

Schierz, Ingrid Anne Mandy;
Cimador, Marcello;
Giuffrè, Mario;
Aiello, Claudia Maria;
Antona, Vincenzo;
Corsello, Giovanni;
Piro, Ettore

Publication type:

Article

Growth patterns and associated risk factors of congenital malformations in twins.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00838-z

By:

Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Serra, Gregorio;
Puccio, Giuseppe;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00836-1

By:

Piro, Ettore;
Serra, Gregorio;
Schierz, Ingrid Anne Mandy;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

Recognizable neonatal clinical features of aplasia cutis congenita.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0789-5

By:

Schierz, Ingrid Anne Mandy;
Giuffrè, Mario;
Del Vecchio, Antonello;
Antona, Vincenzo;
Corsello, Giovanni;
Piro, Ettore

Publication type:

Article

Efficacy of a coordinated strategy for containment of multidrug-resistant Gram-negative bacteria carriage in a Neonatal Intensive Care Unit in the context of an active surveillance program.

Published in:

Antimicrobial Resistance & Infection Control, 2021, v. 10, n. 1, p. 1, doi. 10.1186/s13756-021-00902-1

By:

Saporito, Laura;
Graziano, Giorgio;
Mescolo, Federica;
Amodio, Emanuele;
Insinga, Vincenzo;
Rinaudo, Grazia;
Aleo, Aurora;
Bonura, Celestino;
Vitaliti, Marcello;
Corsello, Giovanni;
Vitale, Francesco;
Maida, Carmelo Massimo;
Giuffrè, Mario

Publication type:

Article

Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study.

Published in:

2018

By:

Schierz, Ingrid Anne Mandy;
Pinello, Giuseppa;
Piro, Ettore;
Giuffrè, Mario;
La Placa, Simona;
Corsello, Giovanni

Publication type:

journal article

Monitoring neonatal fungal infection with metabolomics.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2014, v. 27, p. 34, doi. 10.3109/14767058.2014.954787

By:

Dessì, Angelica;
Liori, Barbara;
Caboni, Pierluigi;
Corsello, Giovanni;
Giuffrè, Mario;
Noto, Antonio;
Serraino, Francesca;
Stronati, Mauro;
Zaffanello, Marco;
Fanos, Vassilios

Publication type:

Article

Urinary metabolomics of bronchopulmonary dysplasia (BPD): preliminary data at birth suggest it is a congenital disease.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2014, v. 27, p. 39, doi. 10.3109/14767058.2014.955966

By:

Fanos, Vassilios;
Cristina Pintus, Maria;
Lussu, Milena;
Atzori, Luigi;
Noto, Antonio;
Stronati, Mauro;
Guimaraes, Hercilia;
Marcialis, Maria Antonietta;
Rocha, Gustavo;
Moretti, Corrado;
Papoff, Paola;
Lacerenza, Serafina;
Puddu, Silvia;
Giuffrè, Mario;
Serraino, Francesca;
Mussap, Michele;
Corsello, Giovanni

Publication type:

Article

Prematurity and twinning.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, p. 6, doi. 10.3109/14767058.2012.712350

By:

Giuffrè, Mario;
Piro, Ettore;
Corsello, Giovanni

Publication type:

Article

Congenital malformations.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, p. 25, doi. 10.3109/14767058.2012.664943

By:

Corsello, Giovanni;
Giuffrè, Mario

Publication type:

Article

Prevention of nosocomial infections and surveillance of emerging resistances in NICU.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2011, v. 24, p. 23, doi. 10.3109/14767058.2011.607567

By:

Cipolla, Domenico;
Giuffrè, Mario;
Mammina, Caterina;
Corsello, Giovanni

Publication type:

Article

Antimicrobial Stewardship: A Correct Management to Reduce Sepsis in NICU Settings.

Published in:

Antibiotics (2079-6382), 2024, v. 13, n. 6, p. 520, doi. 10.3390/antibiotics13060520

By:

Notarbartolo, Veronica;
Badiane, Bintu Ayla;
Insinga, Vincenzo;
Giuffrè, Mario

Publication type:

Article

Surveillance of Multidrug-Resistant Pathogens in Neonatal Intensive Care Units of Palermo, Italy, during SARS-CoV-2 Pandemic.

Published in:

Antibiotics (2079-6382), 2023, v. 12, n. 9, p. 1457, doi. 10.3390/antibiotics12091457

By:

Graziano, Giorgio;
Notarbartolo, Veronica;
Priano, Walter;
Maida, Carmelo Massimo;
Insinga, Vincenzo;
Rinaudo, Grazia;
Russo, Arianna;
Palermo, Roberta;
Vitale, Francesco;
Giuffrè, Mario

Publication type:

Article

Surgical Antimicrobial Prophylaxis in Abdominal Surgery for Neonates and Paediatrics: A RAND/UCLA Appropriateness Method Consensus Study.

Published in:

Antibiotics (2079-6382), 2022, v. 11, n. 2, p. 279, doi. 10.3390/antibiotics11020279

By:

Bianchini, Sonia;
Rigotti, Erika;
Monaco, Sara;
Nicoletti, Laura;
Auriti, Cinzia;
Castagnola, Elio;
Conti, Giorgio;
Galli, Luisa;
Giuffrè, Mario;
La Grutta, Stefania;
Lancella, Laura;
Lo Vecchio, Andrea;
Maglietta, Giuseppe;
Petrosillo, Nicola;
Pietrasanta, Carlo;
Principi, Nicola;
Tesoro, Simonetta;
Venturini, Elisabetta;
Piacentini, Giorgio;
Lima, Mario

Publication type:

Article

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7631, doi. 10.3390/ijms21207631

By:

Antona, Vincenzo;
Scalia, Federica;
Giorgio, Elisa;
Radio, Francesca C.;
Brusco, Alfredo;
Oliveri, Massimiliano;
Corsello, Giovanni;
Lo Celso, Fabrizio;
Vadalà, Maria;
Conway de Macario, Everly;
Macario, Alberto J. L.;
Cappello, Francesco;
Giuffrè, Mario

Publication type:

Article

Semi-Automatic Volumetric Segmentation of the Upper Airways in Patients with Pierre Robin Sequence.

Published in:

Neuroradiology Journal, 2014, v. 27, n. 4, p. 487, doi. 10.15274/NRJ-2014-10067

By:

SALERNO, SERGIO;
GAGLIARDO, CESARE;
VITABILE, SALVATORE;
MILITELLO, CARMELO;
LA TONA, GIUSEPPE;
GIUFFRÈ, MARIO;
LO CASTO, ANTONIO;
MIDIRI, MASSIMO

Publication type:

Article

Group B streptococcus colonization in pregnancy and neonatal outcomes: a three-year monocentric retrospective study during and after the COVID-19 pandemic.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01738-2

By:

Serra, Gregorio;
Scalzo, Lucia Lo;
Giordano, Maria;
Giuffrè, Mario;
Trupiano, Pietro;
Venezia, Renato;
Corsello, Giovanni

Publication type:

Article

Group B streptococcus colonization in pregnancy and neonatal outcomes: a three-year monocentric retrospective study during and after the COVID-19 pandemic.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01738-2

By:

Serra, Gregorio;
Scalzo, Lucia Lo;
Giordano, Maria;
Giuffrè, Mario;
Trupiano, Pietro;
Venezia, Renato;
Corsello, Giovanni

Publication type:

Article

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, p. 1, doi. 10.1186/s13052-024-01632-x

By:

Serra, Gregorio;
Antona, Vincenzo;
Insinga, Vincenzo;
Morgante, Giusy;
Vassallo, Alessia;
Placa, Simona La;
Piro, Ettore;
Salerno, Sergio;
Schierz, Ingrid Anne Mandy;
Gitto, Eloisa;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

New and old criteria for diagnosing celiac disease: do they really differ? A retrospective observational study.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01625-w

By:

Accomando, Salvatore;
Rita Piazza, Ilenia;
Cacciatore, Francesca;
Notarbartolo, Veronica;
Corsello, Giovanni;
Giuffrè, Mario

Publication type:

Article

Report and follow-up on two new patients with congenital mesoblastic nephroma.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01523-7

By:

Serra, Gregorio;
Cimador, Marcello;
Giuffrè, Mario;
Insinga, Vincenzo;
Montante, Claudio;
Pensabene, Marco;
Piro, Ettore;
Salerno, Sergio;
Schierz, Ingrid Anne Mandy;
Corsello, Giovanni

Publication type:

Article

Antibiotic prophylaxis for ophthalmia neonatorum in Italy: results from a national survey and the Italian intersociety new position statements.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01507-7

By:

Mondì, Vito;
Tzialla, Chryssoula;
Aversa, Salvatore;
Merazzi, Daniele;
Martinelli, Stefano;
Araimo, Gabriella;
Massenzi, Luca;
Cavallaro, Giacomo;
Gagliardi, Luigi;
Piersigilli, Fiammetta;
Giuffrè, Mario;
Lozzi, Simona;
Manzoni, Paolo;
Mosca, Fabio;
Cetin, Irene;
Trojano, Vito;
Valensise, Herbert;
Colacurci, Nicola;
Orfeo, Luigi;
Auriti, Cinzia

Publication type:

Article

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01421-y

By:

Serra, Gregorio;
Antona, Vincenzo;
Cimador, Marcello;
Collodoro, Giorgia;
Guida, Marco;
Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Verde, Vincenzo;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01404-5

By:

Serra, Gregorio;
Carta, Maurizio;
Di Pace, Maria Rita;
La Sala, Eleonora;
Piro, Ettore;
Salerno, Sergio;
Schierz, Ingrid Anne Mandy;
Vassallo, Alessia;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01403-6

By:

Serra, Gregorio;
Antona, Vincenzo;
Di Pace, Maria Rita;
Giuffrè, Mario;
Morgante, Giusy;
Piro, Ettore;
Pirrello, Roberto;
Salerno, Sergio;
Schierz, Ingrid Anne Mandy;
Verde, Vincenzo;
Corsello, Giovanni

Publication type:

Article

Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01352-0

By:

Accomando, Salvatore;
Restivo, Giulia Angela;
Scalzo, Simona;
Guardino, Melania;
Corsello, Giovanni;
Giuffrè, Mario

Publication type:

Article

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01365-9

By:

Serra, Gregorio;
Giambrone, Clara;
Antona, Vincenzo;
Cardella, Francesca;
Carta, Maurizio;
Cimador, Marcello;
Corsello, Giovanni;
Giuffrè, Mario;
Insinga, Vincenzo;
Maggio, Maria Cristina;
Pensabene, Marco;
Schierz, Ingrid Anne Mandy;
Piro, Ettore

Publication type:

Article

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01336-0

By:

Serra, Gregorio;
Memo, Luigi;
Cavicchioli, Paola;
Cutrone, Mario;
Giuffrè, Mario;
La Torre, Maria Laura;
Schierz, Ingrid Anne Mandy;
Corsello, Giovanni

Publication type:

Article

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01330-6

By:

Schierz, Ingrid Anne Mandy;
Amoroso, Salvatore;
Antona, Vincenzo;
Giuffrè, Mario;
Piro, Ettore;
Serra, Gregorio;
Corsello, Giovanni

Publication type:

Article

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01329-z

By:

Serra, Gregorio;
Antona, Vincenzo;
Cannata, Chiara;
Giuffrè, Mario;
Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Corsello, Giovanni

Publication type:

Article

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01241-6

By:

Serra, Gregorio;
Felice, Sofia;
Antona, Vincenzo;
Di Pace, Maria Rita;
Giuffrè, Mario;
Piro, Ettore;
Corsello, Giovanni

Publication type:

Article

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2022, v. 35, n. 23, p. 4513, doi. 10.1080/14767058.2020.1854213

By:

Schierz, Ingrid Anne Mandy;
Piro, Ettore;
Giuffrè, Mario;
Pinello, Giuseppa;
Angelini, Alice;
Antona, Vincenzo;
Cimador, Marcello;
Corsello, Giovanni

Publication type:

Article

A Snapshot on MRSA Epidemiology in a Neonatal Intensive Care Unit Network, Palermo, Italy.

Published in:

Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.00815

By:

Geraci, Daniela M.;
Giuffrè, Mario;
Bonura, Celestino;
Graziano, Giorgio;
Saporito, Laura;
Insinga, Vincenzo;
Rinaudo, Grazia;
Aleo, Aurora;
Vecchio, Davide;
Mammina, Caterina;
Zarrilli, Raffaele

Publication type:

Article

Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy.

Published in:

2007

By:

Carta, Maurizio;
Cimador, Marcello;
Giuffrè, Mario;
Sergio, Maria;
Pace, Maria;
Grazia, Enrico;
Corsello, Giovanni

Publication type:

Report

MUSCULAR BIOPSY EXAMINATION AND IN SILICO ANALYSIS OF A NOVEL GENETIC VARIANT OF CCT5 RELATED TO MOTOR NEUROPATHY: A NOVEL APPROACH TO STUDY INHERITED NEUROMUSCULAR DISEASES.

Published in:

Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2021, v. 94, p. 25

By:

SCALIA, Federica;
ANTONA, Vincenzo;
LO CELSO, Fabrizio;
VADALÀ, Maria;
VITALE, Alessandra Maria;
MANGANO, Giuseppe Donato;
MARINO GAMMAZZA, Antonella;
BARONE, Rosario;
RAPPA, Francesca;
AMATO, Domenico;
SENTIERO, Giusy;
LO BOSCO, Giosuè;
BARONE, Giampaolo;
CONWAY DE MACARIO, Everly;
MACARIO, Alberto J. L.;
GIUFFRÈ, Mario;
CAPPELLO, Francesco

Publication type:

Article