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Lucia Galli

Research Profile

Physiology

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Italy

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Polymorphism, Single-Stranded Conformational

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Publications

TOP 3
Andrea Mignarri; Alfredo Orrico; Francesco Sicurelli; Maria Alessandra Carluccio; Antonio Federico; Lucia Galli; Alessandro Malandrini; Maria Antonietta Mazzei; Maria Teresa Dotti
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.
Alfredo Orrico; Marcella Zollino; Lucia Galli; Sabrina Buoni; Giuseppe Marangi; Vincenzo Sorrentino
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.
Alfredo Orrico; Lucia Galli; S Buoni; A Orsi; G Vonella; Vincenzo Sorrentino
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

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All Publications

2012: Andrea Mignarri; Alfredo Orrico; Francesco Sicurelli; Maria Alessandra Carluccio; Antonio Federico; Lucia Galli; Alessandro Malandrini; Maria Antonietta Mazzei; Maria Teresa Dotti
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.
Neuromuscular disorders : NMD 2012;22(8):759-62.
2009: Alfredo Orrico; Marcella Zollino; Lucia Galli; Sabrina Buoni; Giuseppe Marangi; Vincenzo Sorrentino
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.
American journal of medical genetics. Part A 2009;149A(5):1033-5.
2009: Alfredo Orrico; Lucia Galli; S Buoni; A Orsi; G Vonella; Vincenzo Sorrentino
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
Clinical genetics 2009;75(2):195-8.
2008: Alessandro Malandrini; Alfredo Orrico; Carmen Gaudiano; Simona Gambelli; Lucia Galli; Gianna Berti; Vincenzo Tegazzin; Maria Teresa Dotti; Antonio Federico; Vincenzo Sorrentino
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.
Anesthesiology 2008;109(4):625-8.
2007: Grosso Salvatore; Alfredo Orrico; Lucia Galli; Rosanna Maria Di Bartolo; Vincenzo Sorrentino; Paolo Balestri
SCN1A mutation associated with atypical Panayiotopoulos syndrome.
Neurology 2007;69(6):609-11.
2007: Daniela Rossi; Patrick De Smet; Alla Lyfenko; Lucia Galli; Stefania Lorenzini; Daniela Franci; Francesco Petrioli; Alfredo Orrico; Corrado Angelini; Vincenzo Tegazzin; Robert Dirksen; Vincenzo Sorrentino
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.
Journal of medical genetics 2007;44(2):e67.
2007: Simona Gambelli; Alessandro Malandrini; Gianna Berti; Carmen Gaudiano; Enza Zicari; P Brunori; G Perticoni; Alfredo Orrico; Lucia Galli; Vincenzo Sorrentino; J Lunardi; Antonio Federico; Maria Teresa Dotti
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Clinical genetics 2007;71(1):93-4.
2007: Alfredo Orrico; Lucia Galli; M G Obregon; M F de Castro Perez; Michela Falciani; Vincenzo Sorrentino
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
American journal of medical genetics. Part A 2007;143(1):58-63.
2006: Ching-Wan Lam; Matthew Shu-Ching Yan; Tat-Yin Law; Sui-Fan Tong; Alfredo Orrico; Lucia Galli; Vincenzo Sorrentino; Angelo Benedetti
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.
Clinica chimica acta; international journal of clinical chemistry 2006;374(1-2):147-8.
2006: Lucia Galli; Alfredo Orrico; Stefania Lorenzini; Stefano Censini; Michela Falciani; Antonello Covacci; Vincenzo Tegazzin; Vincenzo Sorrentino
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Human mutation 2006;27(8):830.
2006: Sabrina Buoni; Alfredo Orrico; Lucia Galli; Raffaella Zannolli; luca burroni; Joseph Hayek; Alberto Fois; Vincenzo Sorrentino
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.
Neurology 2006;66(4):606-7.
2005: Alfredo Orrico; Lucia Galli; Sabrina Buoni; Giuseppe Hayek; Anna Luchetti; Stefania Lorenzini; Michele Zappella; Maria Grazia Pomponi; Vincenzo Sorrentino
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
American journal of medical genetics. Part A 2005;135(1):99-102.
2004: Alfredo Orrico; Lucia Galli; Maria Luigia Cavaliere; Livia Garavelli; Jean-Pierre Fryns; Ellen Crushell; Maria Michela Rinaldi; Ana Medeira; Vincenzo Sorrentino
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
European journal of human genetics : EJHG 2004;12(1):16-23.
2002: Alfredo Orrico; Lucia Galli; Michele Zappella; Lucia Monti; G P Vatti; Carlo Venturi; Giuseppe Hayek
Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2002;9(6):679-82.
2002: Lucia Galli; Alfredo Orrico; Santolo Cozzolino; V Pietrini; Vincenzo Tegazzin; Vincenzo Sorrentino
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
Cell calcium 2002;32(3):143-51.
2002: Maria Teresa Dotti; Alfredo Orrico; Nicola de Stefano; Carla Battisti; Francesco Sicurelli; S Severi; C W Lam; Lucia Galli; Vincenzo Sorrentino; Antonio Federico
A Rett syndrome MECP2 mutation that causes mental retardation in men.
Neurology 2002;58(2):226-30.
2002: Alessandra Rufa; Maria Teresa Dotti; Lucia Galli; Alfredo Orrico; Francesco Sicurelli; Antonio Federico
Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration.
European neurology 2002;47(2):128-9.
2001: Alfredo Orrico; Lucia Galli; Michele Zappella; C W Lam; Stefania Bonifacio; Francesca Torricelli; Giuseppe Hayek
Possible case of Pitt-Hopkins syndrome in sibs.
American journal of medical genetics 2001;103(2):157-9.
2001: Alfredo Orrico; Lucia Galli; Michele Zappella; Alessandra Orsi; Giuseppe Hayek
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.
Journal of child neurology 2001;16(2):150-3.
2000: Alfredo Orrico; C Lam; Lucia Galli; Maria Teresa Dotti; Giuseppe Hayek; Sui-Fan Tong; Priscilla M K Poon; Michele Zappella; A Federico; Vincenzo Sorrentino
MECP2 mutation in male patients with non-specific X-linked mental retardation.
FEBS letters 2000;481(3):285-8.
2000: Alfredo Orrico; Lucia Galli; Michela Falciani; M Bracci; Maria Luigia Cavaliere; Maria Michela Rinaldi; A Musacchio; Vincenzo Sorrentino
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
FEBS letters 2000;478(3):216-20.
1999: Lucia Galli; Alfredo Orrico; Paola Marcolongo; Rosella Fulceri; Ann Burchell; Daniela Melis; Rossella Parini; Rosanna Gatti; C Lam; Angelo Benedetti; Vincenzo Sorrentino
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
FEBS letters 1999;459(2):255-8.
1998: Alessandro Malandrini; Lucia Galli; Marcello Villanova; Silvia Palmeri; E Parrotta; D DeFalco; M Cappelli; Gabriella Grieco; Alessandra Renieri; Gianni Guazzi
CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.
European neurology 1998;40(3):164-8.
1998: Alfredo Orrico; Lucia Galli; Maria Teresa Dotti; K Plewnia; Stefano Censini; Antonio Federico
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.
American journal of medical genetics 1998;78(4):341-4.