M. Maioli

发表

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Susan C. Brown, K. Bushby, F. Muntoni, 2006, Neuromuscular Disorders.

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.

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.

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

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

Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib.

G. Caocci, G. la Nasa, N. Carboni, 2012, Leukemia research.

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

S. Corti, M. Silvestrini, M. Turri, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

A. Padovani, G. Siciliano, P. Tonin, 2019, Advances in Therapy.

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.

Next-generation sequencing approach to hyperCKemia

E. Mercuri, A. Federico, G. Siciliano, 2019, Neurology: Genetics.

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

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

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.

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

F. Sera, L. Santoro, C. Angelini, 2020, Scientific Reports.

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.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

G. Pesole, E. Bertini, K. Bushby, 2016, Journal of Cell Science.

Influence of treatments in multiple sclerosis disability: A cohort study

P. Contu, G. Fenu, J. Frau, 2015, Multiple sclerosis.

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

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

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.

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.

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

G. Siciliano, A. Malandrini, F. Santorelli, 2022, International journal of molecular sciences.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

S. Dimauro, E. Malfatti, N. Romero, 2016, Neuromuscular Disorders.

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study

M. Coccia, E. Pegoraro, T. Mongini, 2023, Neuromuscular Disorders.

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.

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.