Giuliana Galluzzi

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.8kcitations48works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(33), Cardiomyopathy and Myosin Studies(17), Genetic Neurodegenerative Diseases(11), RNA Research and Splicing(8), Neurogenetic and Muscular Disorders Research(8)

Publications48 total

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity
Journal of Clinical Investigation·2017· 65 citedOpen Access
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Journal of Medical Genetics·2016· 71 cited
T1-W MR images in FSHD patients with different disease severity.
Figshare·2015Open Access
Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
PLoS ONE·2014· 88 citedOpen Access
Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
Brain·2013· 119 citedOpen Access
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
The American Journal of Human Genetics·2012· 123 citedOpen Access
P-6Unusual concurrence of Facio-scapulo-humeraldystrophy and Williams Syndrome in a youngboy
PubMed Central·2011Open Access
P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams–Beuren syndrome
Neuromuscular Disorders·2011
P2.38 Lower limb muscle MRI in a large cohort of FSHD patients
Neuromuscular Disorders·2011· 3 cited
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
Muscle & Nerve·2010· 151 citedOpen Access
G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?
Neuromuscular Disorders·2009· 1 cited
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample
Clinical Genetics·2009· 157 cited
D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy
Neuromuscular Disorders·2008
G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients
Neuromuscular Disorders·2008
G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene
Neuromuscular Disorders·2007· 1 cited
Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function
Audiology and Neurotology·2007· 46 citedOpen Access
Sleep quality in Facioscapulohumeral muscular dystrophy
Journal of the Neurological Sciences·2007· 30 cited
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
Neurology·2007· 128 cited
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
BMC Medical Genetics·2007· 28 citedOpen Access
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
The FASEB Journal·2007· 244 cited
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Frequent Co-authors

Enzo Ricci(28), L. Felicetti(12), C. Angelini(11), Giuliano Tomelleri(10), Giancarlo Deidda(9), Serenella Servidei(9), Rossella Tupler(9), Lucía Morandi(8), Ebe Pastorello(8), Roberto Frusciante(8), L. Palmucci(8), Pietro Tonali(7), S. Cacurri(7), Carmelo Rodolico(7), Maurizio Moggio(7), Carlo P. Trevisan(7), Luca Colantoni(6), Massimiliano Mirabella(6), Gabriele Siciliano(6), Antonio Di Muzio(6)