G. Marrosu

发表

A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities

L. Barberini, M. Mura, G. Mallarini, 2006, Neurological Sciences.

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

G. Mercuro, M. Mura, A. Mateddu, 2010, Muscle & nerve.

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot–Marie–Tooth and distal hereditary motor neuropathy

S. Benedetti, P. Solla, S. Coviello, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

C. Angelini, M. Ermani, G. Siciliano, 2012, Journal of Neurology.

New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy

G. Comi, C. Angelini, G. Siciliano, 2012, Muscle & nerve.

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin‐α2‐chain gene: A chance association or a novel phenotype?

A. Mateddu, M. Porcu, M. Marrosu, 2011, Muscle & nerve.

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

A. Mateddu, M. Marrosu, E. Cocco, 2013, Muscle & nerve.

Cardiac involvement in patients with lamin A/C gene mutations: A cohort observation

A. Mateddu, V. Nissardi, M. Marrosu, 2012, Muscle & nerve.

Treatment of refractory chronic inflammatory demyelinating polyneuropathy with interferon β1B

M. Marrosu, E. Cocco, E. Mamusa, 2005, Journal of Neurology.

Surface markers on lymphocytes from human cerebrospinal fluid Identification by monoclonal antibodies

C. Cianchetti, P. Manconi, M. Marrosu, 1983, Journal of Neuroimmunology.

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

F. Muntoni, C. Cianchetti, S. Vaccargiu, 1997, Neurology.

Lymphocyte subpopulations in blood and cerebrospinal fluid from patients with subacute sclerosing panencephalitis

C. Cianchetti, P. Manconi, M. Marrosu, 1983, Acta neurologica Scandinavica.

Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis.

F. Muntoni, C. Cianchetti, I. Aiello, 1993, Archives of neurology.

Genetic factors and the founder effect explain familial MS in Sardinia

P. Contu, M. Marrosu, E. Cocco, 2002, Neurology.

Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy

E. Mercuri, M. Mura, L. Politano, 2012, Neuromuscular Disorders.

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

R. Hegele, F. Brancati, G. Novelli, 2014, Muscle & nerve.

Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations

C. Angelini, E. Pegoraro, J. Vissing, 2011, Muscle & nerve.

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

L. Maggi, L. Politano, A. Mateddu, 2013, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

F. Muntoni, C. Cianchetti, S. Vaccargiu, 1998, Neurology.

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

G. Mercuro, M. Mura, A. Mateddu, 2008, Neuromuscular Disorders.

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.

L. Mestroni, F. Muntoni, C. Cianchetti, 1995, The Journal of clinical investigation.

Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population

P. Tacconi, G. Fenu, S. Tranquilli, 2017, Neurological Sciences.

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement

M. Mura, M. Porcu, S. Tranquilli, 2010, Muscle & nerve.

G. Fenu, J. Frau, M. Marrosu, 2021, Multiple sclerosis and related disorders.

Genotype-phenotype correlation in Pompe disease, a step forward

C. Angelini, G. Siciliano, P. Tonin, 2014, Orphanet Journal of Rare Diseases.

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

C. Cianchetti, L. Middleton, K. Christodoulou, 2012, European Journal of Human Genetics.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

G. Comi, C. Angelini, G. Iorio, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

A Novel Mutation in Lamin A/C Gene: Phenotype and Consequences on the Protein Structure and Flexibility

M. Mura, A. Mateddu, M. Floris, 2010 .

Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score

Massimiliano Pau, Giuseppe Fenu, Micaela Porta, 2018, Disability and rehabilitation.

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

M. Mura, A. Mateddu, M. Porcu, 2011, Muscle & nerve.

Toxic effect of intraventricular interferon-alpha in subacute sclerosing panencephalitis

F. Muntoni, C. Cianchetti, M. Marrosu, 2006, The Italian Journal of Neurological Sciences.

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

A. Mateddu, M. Marrosu, E. Cocco, 2013, Muscle & nerve.

A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery–Dreifuss muscular dystrophy phenotype

P. Tacconi, A. Mateddu, M. Marrosu, 2007, Muscle & nerve.