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Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Neuromuscular disorders : NMD, 2015-05, Vol.25 (5), p.423-428

2015

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

Neuromuscular disorders : NMD, 2012-12, Vol.22 (3-3), p.S226-S229

2012

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ORAI1 mutations cause abnormal channel gating in tubular aggregate myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S211-S211

2016

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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Neuromuscular disorders : NMD, 2012-08, Vol.22 (8), p.685-689

2012

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G.P.185

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.865-866

2014

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Late-onset congenital myopathies: Clinical and molecular features

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S277-S278

2015

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New molecular findings in congenital myopathies due to selenoprotein N gene mutations

Journal of the neurological sciences, 2011-01, Vol.300 (1), p.107-113

2011

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T.P.18

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.869-870

2014

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G.P.251

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.892-892

2014

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A Subpopulation of Murine Bone Marrow Cells Fully Differentiates along the Myogenic Pathway and Participates in Muscle Repair in the mdx Dystrophic Mouse

Experimental cell research, 2002-07, Vol.277 (1), p.74-85

2002

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PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: Dissecting the role of cell-free circulating mtDNA and copy number

Digestive and liver disease, 2023-03, Vol.55, p.S11-S11

2023

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T.03.5 EFFECT OF ENVIRONMENTAL BISPHENOL A EXPOSURE ON TRAINED IMMUNITY-RELATED PATHWAYS IN NON-ALCOHOLIC FATTY LIVER DISEASE: A PRELIMINARY OBSERVATION

Digestive and liver disease, 2023-03, Vol.55, p.S146-S147

2023

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O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.852-852

2013

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The co-presence of PNPLA3, MBOAT7 and TM6SF2 loss-of-functions impairs mitochondrial morphology and number in severe NAFLD patients

Digestive and liver disease, 2022-03, Vol.54, p.S5

2022

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P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.683-683

2011

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Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

Journal of the neurological sciences, 2008-12, Vol.275 (1), p.159-163

2008

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P2.50 LGMD2L in Italian population: New mutations and clinical and morphological aspects

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.675-675

2011

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G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.596-596

2009

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A mobile app for patients with Pompe disease and its possible clinical applications

Neuromuscular disorders : NMD, 2018-06, Vol.28 (6), p.471-475

2018

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T.P.3.04 Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.611-611

2009

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CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.228Severe nemaline myopathy manifesting as 'Amish phenotype' related to homozygous mutation in TNNT1

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S101-S101

2018

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CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S101

2018

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D.P.3.12 Autosomal recessive Ala93Thr mutation of caveolin-3 gene: A new family

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.768-768

2008

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G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

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

2009

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D.P.1.08 Morphological pattern of muscle biopsy in a large cohort of FSHD patients

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.728-729

2008

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Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

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

ORAI1 mutations cause abnormal channel gating in tubular aggregate myopathy

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

G.P.185

Late-onset congenital myopathies: Clinical and molecular features

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

T.P.18

G.P.251

A Subpopulation of Murine Bone Marrow Cells Fully Differentiates along the Myogenic Pathway and Participates in Muscle Repair in the mdx Dystrophic Mouse

PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: Dissecting the role of cell-free circulating mtDNA and copy number

T.03.5 EFFECT OF ENVIRONMENTAL BISPHENOL A EXPOSURE ON TRAINED IMMUNITY-RELATED PATHWAYS IN NON-ALCOHOLIC FATTY LIVER DISEASE: A PRELIMINARY OBSERVATION

O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder

The co-presence of PNPLA3, MBOAT7 and TM6SF2 loss-of-functions impairs mitochondrial morphology and number in severe NAFLD patients

P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

P2.50 LGMD2L in Italian population: New mutations and clinical and morphological aspects

G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1

A mobile app for patients with Pompe disease and its possible clinical applications

T.P.3.04 Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.228Severe nemaline myopathy manifesting as 'Amish phenotype' related to homozygous mutation in TNNT1

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

D.P.3.12 Autosomal recessive Ala93Thr mutation of caveolin-3 gene: A new family

G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

D.P.1.08 Morphological pattern of muscle biopsy in a large cohort of FSHD patients

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