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A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis

Clinical genetics, 2017-05, Vol.91 (5), p.780-786

2017

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O.22 Autosomal dominant Core Congenital Myopathy caused by a mutation in the MYH7 gene

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.851-851

2013

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G.P.269

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.898-898

2014

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G.P.49

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.809-809

2014

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G.P.38

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.806-806

2014

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G.O.22

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.921-922

2014

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STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S39-S39

2017

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P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.814-814

2013

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P.9.6 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.785-785

2013

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G.P.265

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-897

2014

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G.P.145

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.844-845

2014

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G.P.275

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.899-900

2014

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P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.748-748

2013

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G.P.264

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-896

2014

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P3.34 Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient mice

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.692-692

2011

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Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.182-188

2009

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P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.785-785

2013

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G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.829-829

2012

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D.O.4 Next generation sequencing for genetic diagnosis and gene identification in myopathies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.806-806

2012

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G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.827-828

2012

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P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findings

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.663-663

2011

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P5.48 Infantile-onset permanent weakness in muscle phosphofructokinase deficiency

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.738-739

2011

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G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.902-902

2012

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C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.839-839

2012

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G.O.2

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.792-793

2014

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A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis

O.22 Autosomal dominant Core Congenital Myopathy caused by a mutation in the MYH7 gene

G.P.269

G.P.49

G.P.38

G.O.22

STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis

P.9.6 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

G.P.265

G.P.145

G.P.275

P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl

G.P.264

P3.34 Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient mice

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy

D.O.4 Next generation sequencing for genetic diagnosis and gene identification in myopathies

G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findings

P5.48 Infantile-onset permanent weakness in muscle phosphofructokinase deficiency

G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study

C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance

G.O.2

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