E. Pegoraro

发表

Legends Worthy of Lament: An Analysis of Self-Presentation and User Framing on the Legends Football League's Facebook Page

Ann Pegoraro, L. Burch, E. Frederick, 2017 .

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

H. Marks, K. Arahata, Y. Hayashi, 1994, American journal of human genetics.

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

E. Hoffman, M. Zeviani, P. Barboni, 1996, American journal of medical genetics.

Private β‐ and γ‐sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy

E. Hoffman, M. Fanin, E. Pegoraro, 2000, Human mutation.

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.

U. Surti, E. Hoffman, J. Whitaker, 1997, American journal of human genetics.

Laminin α2 muscular dystrophy

T. Crawford, E. Hoffman, R. Zimmerman, 1998, Neurology.

A novel laminin α2 isoform in severe laminin α2 deficient congenital muscular dystrophy

E. Hoffman, C. Angelini, E. Pegoraro, 2000, Neurology.

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

G. Comi, G. Gigli, G. Siciliano, 2023, Genes.

MR imaging findings in children with merosin-deficient congenital muscular dystrophy.

E. Hoffman, M. Scavina, E. Pegoraro, 1999, AJNR. American journal of neuroradiology.

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

E. Hoffman, C. Angelini, E. Pegoraro, 1995, Human molecular genetics.

Prognostic factors in mild dystrophinopathies

G. Danieli, C. Angelini, G. Siciliano, 1996, Journal of the Neurological Sciences.

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

G. Lanfranchi, C. Angelini, M. Ermani, 2010, Neurology.

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D 4 Z 4 reduced alleles : experience of the FSHD Italian National Registry

F. Sera, L. Santoro, G. Siciliano, 2016 .

Calpain-3 and dysferlin protein screening in patients with limb–girdle dystrophy and myopathy

C. Angelini, E. Pegoraro, M. Fanin, 2001, Neurology.

Congenital muscular dystrophies with defective glycosylation of dystroglycan

G. Comi, G. Vasco, M. Pane, 2009, Neurology.

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

R. Stramare, C. Angelini, C. Angelini, 2010, La radiologia medica.

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

C. Angelini, E. Pegoraro, A. Nascimbeni, 2009, Neurology.

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15

E. Hoffman, C. Mariani, E. Farina, 1999, Neurology.

Myotonia and the muscle chloride channel

E. Hoffman, C. Angelini, M. Cadaldini, 1996, Neurology.

Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes

C. Angelini, M. Cadaldini, E. Pegoraro, 1994, Neuromuscular Disorders.

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

E. Hoffman, C. Angelini, D. Bonifati, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

C. Angelini, M. Ermani, E. Pegoraro, 2011, Neurology.

Retrospective study on PET–SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

C. Angelini, M. Ermani, E. Pegoraro, 2010, Neurological Sciences.

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

C. Angelini, M. Ermani, G. Novelli, 2010, Journal of Neurology.

Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable?

S. Corti, M. Pane, A. D’Amico, 2023, Annals of Neurology.

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

C. Angelini, A. Pichiecchio, E. Pegoraro, 2004, Neurology.

Epidemiology of ALS in Padova district, Italy, from 1992 to 2005

G. Logroscino, C. Angelini, C. Briani, 2009, European journal of neurology.

LGMD2E patients risk developing dilated cardiomyopathy

C. Angelini, E. Pegoraro, M. Fanin, 2003, Neuromuscular Disorders.

Cardiac transplantation in a Duchenne muscular dystrophy carrier

A. Angelini, G. Danieli, G. Thiene, 1998, Neuromuscular Disorders.

Mutations in the sarcoglycan genes in patients with myopathy.

E. Hoffman, C. Angelini, A. Berardinelli, 1997, The New England journal of medicine.

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy

E. Hoffman, C. Angelini, M. Cadaldini, 1995, Neurology.

Memory deficits and retrieval processes in ALS 1

C. Angelini, G. Barba, C. Angelini, 2003, European journal of neurology.

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

E. Bertini, G. Comi, R. Caldara, 2007, Neurology.

Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

M. Fanin, E. Pegoraro, E. Albertini, 2009, Neuropathology and applied neurobiology.

Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation

E. Pegoraro, L. Bello, G. Soraru', 2014, Autoimmunity Highlights.

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

C. Angelini, E. Pegoraro, R. Manara, 2011, Journal of Neurology.