Corrado Angelini

发表

Muscle pathology in dysferlin deficiency

C. Angelini, M. Fanin, Corrado Angelini, 2002, Neuropathology and applied neurobiology.

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

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

TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

N. Bresolin, S. Corti, M. Mancuso, 2009, European journal of neurology.

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

C. Angelini, M. Sandri, E. Masiero, 2012, Cell Death and Differentiation.

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

E. Hoffman, G. Danieli, C. Angelini, 1999, Muscle & nerve.

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

C. Angelini, G. Vazza, L. Rampoldi, 2000, Neuromuscular Disorders.

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.

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.

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

C. Angelini, B. Dallapiccola, G. Novelli, 1994, Journal of endocrinological investigation.

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy.

F. Crea, C. Angelini, G. Siciliano, 1989, Journal of the American College of Cardiology.

LGMD2E patients risk developing dilated cardiomyopathy

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

Mutations in the sarcoglycan genes in patients with myopathy.

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

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

N. Bourg, R. Barohn, D. McKenna-Yasek, 2001, Neurology.

Caspase 3 Expression Correlates With Skeletal Muscle Apoptosis in Duchenne and Facioscapulo Human Muscular Dystrophy. A Potential Target for Pharmacological Treatment?

C. Angelini, P. Schjerling, M. Sandri, 2001, Journal of neuropathology and experimental neurology.

Lipid storage myopathies

C. Angelini, Corrado Angelini, 1976, Journal of Neurology.

Update on polyglucosan storage diseases

C. Angelini, G. Cenacchi, M. Fanin, 2019, Virchows Archiv.

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations

C. Angelini, A. Nascimbeni, M. Fanin, 2006, Journal of Medical Genetics.

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy

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

Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy

S. Dimauro, C. Angelini, M. Cadaldini, 1996, Journal of the Neurological Sciences.

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

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

Duchenne muscular dystrophy

Corrado Angelini, 2014 .

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

C. Angelini, Corrado Angelini, 2004, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

C. Angelini, E. Pegoraro, L. Bello, 2016, Scientific Reports.

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

S. Dimauro, C. Angelini, G. Basso, 2005, Neurology.

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.

L. Mestroni, M. Giacca, F. Muntoni, 1996, Human molecular genetics.

Prevalence of dystrophin-positive fibers in 85 duchenne muscular dystrophy patients

G. Danieli, C. Angelini, L. Vitiello, 1992, Neuromuscular Disorders.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

G. Comi, M. Zeviani, M. Mancuso, 2012, Neuromuscular Disorders.

Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle.

G. Danieli, G. Thiene, C. Angelini, 2001, Transplantation proceedings.

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

C. Angelini, G. Siciliano, L. Morandi, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

Genetic Variation in KIFAP3 Is Associated with an Upper Motor Neuron-Predominant Phenotype in Amyotrophic Lateral Sclerosis

C. Angelini, M. Ermani, E. Pegoraro, 2011, Neurodegenerative Diseases.

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

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

State of the art in muscle glycogenoses

C. Angelini, Corrado Angelini, 2010, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.