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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

American journal of human genetics, 2011-06, Vol.88 (6), p.729-740

2011

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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Acta neuropathologica communications, 2023-03, Vol.11 (1), p.48-48, Article 48

2023

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Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

American journal of human genetics, 2002-10, Vol.71 (4), p.739-749

2002

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Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

European journal of human genetics : EJHG, 2004-01, Vol.12 (1), p.59-65

2004

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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.846-854

2020

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New Survival Target for Duchenne Muscular Dystrophy

American journal of physical medicine & rehabilitation, 2017-02, Vol.96 (2), p.e28-e30

2017

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Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1

American journal of physical medicine & rehabilitation, 2015-05, Vol.94 (5), p.410-415

2015

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Airway clearance techniques in neuromuscular disorders: A state of the art review

Respiratory medicine, 2018-03, Vol.136, p.98-110

2018

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Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support

American journal of physical medicine & rehabilitation, 2014-07, Vol.93 (7), p.595-599

2014

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Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

American journal of human genetics, 2001-10, Vol.69 (4), p.889-894

2001

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228th ENMC International Workshop:: Airway clearance techniques in neuromuscular disorders Naarden, The Netherlands, 3–5 March, 2017

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.289-298

2018

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A New Congenital Multicores Titinopathy with Myosin deficiency (4032)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Nerve growth factor expression in human dystrophic muscles

Muscle & nerve, 2003-03, Vol.27 (3), p.370-373

2003

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Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Acta myologica, 2020-06, Vol.39 (2), p.98-100

2020

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Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1084-1086

2017

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X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

Annals of neurology, 2000-05, Vol.47 (5), p.666-669

2000

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Daily salbutamol in young patients with SMA type II

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.536-540

2008

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X-linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers

Annals of neurology, 1995-05, Vol.37 (5), p.637-645

1995

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228th ENMC International Workshop

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.289-298

2018

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Focal myositis: A polymerase chain reaction analysis for a viral etiology

Human pathology, 1997, Vol.28 (1), p.111-113

1997

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Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

Acta neuropathologica, 1998-12, Vol.96 (6), p.651-654

1998

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Localization of the laminin α2 chain in normal human skeletal muscle and peripheral nerve : an ultrastructural immunolabeling study

Acta neuropathologica, 1997, Vol.93 (2), p.166-172

1997

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Neuronal intranuclear inclusion disease: neuropathologic study of a case

Brain & development (Tokyo. 1979), 1998-08, Vol.20 (5), p.290-294

1998

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Neuronal intranuclear inclusion disease : polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case

Acta neuropathologica, 1996-02, Vol.91 (2), p.215-218

1996

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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

New Survival Target for Duchenne Muscular Dystrophy

Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1

Airway clearance techniques in neuromuscular disorders: A state of the art review

Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

228th ENMC International Workshop:: Airway clearance techniques in neuromuscular disorders Naarden, The Netherlands, 3–5 March, 2017

A New Congenital Multicores Titinopathy with Myosin deficiency (4032)

Nerve growth factor expression in human dystrophic muscles

Prevalence of congenital muscular dystrophy in Italy: a population study

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

Daily salbutamol in young patients with SMA type II

X-linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers

228th ENMC International Workshop

Focal myositis: A polymerase chain reaction analysis for a viral etiology

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

Localization of the laminin α2 chain in normal human skeletal muscle and peripheral nerve : an ultrastructural immunolabeling study

Neuronal intranuclear inclusion disease: neuropathologic study of a case

Neuronal intranuclear inclusion disease : polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case

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