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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

Clinical genetics, 2009-06, Vol.75 (6), p.550-555

2009

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Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Neurology, 2007-09, Vol.69 (12), p.1285

2007

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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

Annals of neurology, 1999-06, Vol.45 (6), p.751-757

1999

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Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

Journal of medical genetics, 2003-12, Vol.40 (12), p.e132-132

2003

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

Neurology, 1999-07, Vol.53 (1), p.50

1999

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The treatment of land use, land use change and forestry in the post-2012 climate agreement: a perspective from non-Annex I Parties

IForest (Viterbo), 2010, Vol.3 (3), p.56-58

2010

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P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams–Beuren syndrome

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.672-672

2011

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P2.38 Lower limb muscle MRI in a large cohort of FSHD patients

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.671-671

2011

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Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy

American journal of human genetics, 1998-07, Vol.63 (1), p.181-190

1998

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G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.776-776

2008

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G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.649-650

2009

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D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.726-727

2008

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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 : NMD, 2007, Vol.17 (9), p.784-784

2007

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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2000-04, Vol.66 (4), p.1407-1412

2000

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Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement

Neuromuscular disorders : NMD, 2002-11, Vol.12 (9), p.874-877

2002

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Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

Neurology, 1998-08, Vol.51 (2), p.592

1998

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Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells

Proceedings of the National Academy of Sciences - PNAS, 2002-07, Vol.99 (14), p.9456-9461

2002

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Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.190-198

1999

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Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy

Journal of the American College of Cardiology, 2003-07, Vol.42 (2), p.309

2003

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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype

Annals of neurology, 1999-06, Vol.45 (6), p.751-757

1999

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P-6 Unusual concurrence of Facio-scapulo-humeral dystrophy and Williams Syndrome in a young boy

Acta myologica, 2011-10, Vol.30 (2), p.163-163

2011

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Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

Journal of the American College of Cardiology, 2006-02, Vol.47 (3), p.686-688

2006

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Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

Human genetics, 1994-10, Vol.94 (4), p.367-374

1994

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Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies

European journal of pediatrics, 1988-05, Vol.147 (4), p.412-415

1988

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Clinical study of proximal spinal muscular atrophy. Report on 89 cases

Italian journal of neurological sciences, 1984-12, Vol.5 (4), p.423-432

1984

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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

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

The treatment of land use, land use change and forestry in the post-2012 climate agreement: a perspective from non-Annex I Parties

P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams–Beuren syndrome

P2.38 Lower limb muscle MRI in a large cohort of FSHD patients

Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy

G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients

G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?

D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy

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

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells

Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype

P-6 Unusual concurrence of Facio-scapulo-humeral dystrophy and Williams Syndrome in a young boy

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies

Clinical study of proximal spinal muscular atrophy. Report on 89 cases

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