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Stefania Aurino

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Paolo Montuori; D Naviglio; Stefania Aurino; P Lama; Maria Triassi
Metals loads into the Mediterranean Sea: estimate of Sarno River inputs and ecological risk.
Giorgio Tasca; Bjarne Udd; Leigh B Waddell; Stefania Aurino; Nigel F Clarke; Mauro Monforte; Zagaa Odgerel; Enzo Ricci; Lev G Goldfarb
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Alessio Lancioni; Ida Luisa Rotundo; Yvonne Monique Kobayashi; Gerardo Nigro; Dario Acampora; Stefania Aurino; Mafalda Cacciottolo; Kevin P Campbell; Luca D'Orsi; Giulio Piluso; Vincenzo Nigro
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.

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All Publications

2013: Paolo Montuori; D Naviglio; Stefania Aurino; P Lama; Maria Triassi
Metals loads into the Mediterranean Sea: estimate of Sarno River inputs and ecological risk.
Ecotoxicology (London, England) 2013;22(2):295-307.
2012: Giorgio Tasca; Bjarne Udd; Leigh B Waddell; Stefania Aurino; Nigel F Clarke; Mauro Monforte; Zagaa Odgerel; Enzo Ricci; Lev G Goldfarb
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Muscle & nerve 2012;46(2):275-82.
2011: Alessio Lancioni; Ida Luisa Rotundo; Yvonne Monique Kobayashi; Gerardo Nigro; Dario Acampora; Stefania Aurino; Mafalda Cacciottolo; Kevin P Campbell; Luca D'Orsi; Giulio Piluso; Vincenzo Nigro
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.
Human molecular genetics 2011;20(23):4644-54.
2011: Giulio Piluso; Luisa Politano; Filippo Maria Santorelli; Marco Savarese; Alessandra Terracciano; Annalaura Torella; Mariz Vainzof; Stefania Aurino; Enrico Bertini; Carlo Casali; Chiara Criscuolo; Francesca Del Vecchio Blanco; Manuela Dionisi; Teresa Giugliano; Vincenzo Nigro
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Clinical chemistry 2011;57(11):1584-96.
2011: Roberta Roncarati; Annalaura Torella; Massimo Volpe; Stefania Aurino; Camillo Autore; Marie-Louise Bang; Gloria Saccani Jotti; Michael V G Latronico; Beatrice Musumeci; Vincenzo Nigro; Annibale A Puca; Gianluigi Condorelli
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
Journal of cellular physiology 2011;226(11):2894-900.
2011: Vincenzo Nigro; Stefania Aurino; Giulio Piluso
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Current opinion in neurology 2011;24(5):429-36.
2011: Mafalda Cacciottolo; Imma Rosaria Caserta; Marina Fanin; Carlo Minetti; Gelsomina Numitone; Giulio Piluso; Luisa Politano; Enzo Ricci; Corrado Angelini; Stefania Aurino; Vincenzo Nigro
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
European journal of human genetics : EJHG 2011;19(9):974-80.
2011: A Tammaro; Antonietta Di Martino; A Bracco; Santolo Cozzolino; G Savoia; B Andria; A Cannavo; M Spagnuolo; Giulio Piluso; Stefania Aurino; Vincenzo Nigro
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
Clinical genetics 2011;79(5):438-47.
2010: Raoul Jean Pierre Bonnal; Marco Severgnini; Alessandra Castaldi; Roberta Bordoni; Michele Iacono; Amelia Trimarco; Annalaura Torella; Giulio Piluso; Stefania Aurino; Gianluigi Condorelli; De Bellis Gianluca; Vincenzo Nigro
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.
Analytical biochemistry 2010;406(2):176-84.
2010: Giulio Piluso; I L Rotundo; A Torella; Stefania Aurino; M Cacciottolo; F Del Vecchio Blanco; A Lancioni; Vincenzo Nigro
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2010;29(1):1-20.
2010: Lucio Santoro; Maria Nolano; Stefania Faraso; Chiara Fiorillo; Carmen Vitiello; Vincenzo Provitera; Stefania Aurino; Vincenzo Nigro
Perioral skin biopsy to study skeletal muscle protein expression.
Muscle & nerve 2010;41(3):392-8.
2010: Annalaura Torella; Amelia Trimarco; Francesca Del Vecchio Blanco; Anna Cuomo; Stefania Aurino; Giulio Piluso; Carlo Minetti; Luisa Politano; Vincenzo Nigro
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal of molecular diagnostics : JMD 2010;12(1):65-73.
2009: Giulio Piluso; Francesca D'Amico; Valentina Saccone; Ettore Bismuto; Ida Luisa Rotundo; Marina Di Domenico; Stefania Aurino; Charles E Schwartz; Giovanni Neri; Vincenzo Nigro
A missense mutation in CASK causes FG syndrome in an Italian family.
American journal of human genetics 2009;84(2):162-77.
2006: Stefania Aurino; Vincenzo Nigro
Readthrough strategies for stop codons in Duchenne muscular dystrophy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2006;25(1):5-12.
2006: Burcu Balci; Stefania Aurino; Göknur Haliloglu; Beril Talim; Sevim Erdem; Zuhal Akcören; Ersin Tan; Melda Caglar; Isabelle Richard; Vincenzo Nigro; Haluk Topaloglu; Pervin Dincer
Calpain-3 mutations in Turkey.
European journal of pediatrics 2006;165(5):293-8.
2006: Roberta Lanzillo; Stefania Aurino; Marina Fanin; M Aguennoz; F Vitale; Chiara Fiorillo; Emanuele Miraglia del Giudice; Vincenzo Nigro; Lucio Santoro
Early onset calpainopathy with normal non-functional calpain 3 level.
Developmental medicine and child neurology 2006;48(4):304-6.
2005: Giulio Piluso; Luisa Politano; Stefania Aurino; Marina Fanin; Enzo Ricci; V M Ventriglia; A Belsito; A Totaro; V Saccone; Haluk Topaloglu; Anna Chiara Nascimbeni; Luigi Fulizio; A Broccolini; Nina Canki-Klain; Lucia I Comi; Ge Nigro; Corrado Angelini; Vincenzo Nigro
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics 2005;42(9):686-93.
2005: Dirk Fischer; Maggie C Walter; Kristina Kesper; Jens A Petersen; Stefania Aurino; Vincenzo Nigro; Christian Kubisch; Thomas Meindl; Hanns Lochmüller; Kai Wilhelm; Horst Urbach; Rolf Schröder
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Journal of neurology 2005;252(5):538-47.
2004: Burcu Balci; E Wilichowski; G Haliloğlu; Beril Talim; Stefania Aurino; E Kremer; F Ebinger; Nesrin Senbil; Banu Anlar; Gülsev Kale; Vincenzo Nigro; H Topaloğlu; C Bonnemann; Pervin Dinçer
Beta-sarcoglycan gene mutations in Turkey.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2004;23(3):154-8.
2003: Dirk Fischer; Stefania Aurino; Vincenzo Nigro; Rolf Schröder
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
Annals of neurology 2003;54(5):674-8.
2003: Angela Tammaro; Adele Bracco; Santolo Cozzolino; Maria Esposito; Antonietta Di Martino; Gennaro Savoia; Laura Zeuli; Giulio Piluso; Stefania Aurino; Vincenzo Nigro
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
Clinical chemistry 2003;49(5):761-8.