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Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation

European journal of neurology, 2017-07, Vol.24 (7), p.e41-e42

2017

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Uptake and intracellular distribution of different types of nanoparticles in primary human myoblasts and myotubes

International journal of pharmaceutics, 2019-04, Vol.560, p.347-356

2019

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Protein Expression of Canine and Feline Muscular Dystrophies

Topics in companion animal medicine, 2021-03, Vol.42, p.100500-100500, Article 100500

2021

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Autoantibody testing in patients with myositis: clinical accuracy of a multiparametric line immunoassay

Clinical and experimental rheumatology, 2017-01, Vol.35 (1), p.176

2017

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Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome

Neuropathology and applied neurobiology, 2018-08, Vol.44 (5), p.533-536

2018

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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.944-954

2012

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The role of muscle biopsy in investigating isolated muscle pain

Neurology, 2007-01, Vol.68 (3), p.181-186

2007

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8C.05: EPOXYEICOSATRIENOIC ACIDS ARE INCREASED IN PLACENTAS OF PREECLAMPTIC PREGNANCIES

Journal of hypertension, 2015-06, Vol.33 Suppl 1 - ESH 2015 Abstract Book (Supplement 1), p.e111-e111

2015

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Characterization of sarcoplasmic reticulum ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.378-385

2016

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60. Dysphagia in different types of myopathy

Clinical neurophysiology, 2015-01, Vol.126 (1), p.e14-e14

2015

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Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.378-385

2016

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Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes

Gene therapy, 2010-03, Vol.17 (3), p.432-438

2010

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O.13 Using out-of-frame exon skipping to induce IRES-driven expression of an N-truncated dystrophin isoform for 5’ DMD mutations

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.848-848

2013

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Adult-Onset Muscular Dystrophy in a Cat associated with a Presumptive Alteration in Trafficking of Caveolin-3

Journal of comparative pathology, 2012-08, Vol.147 (2-3), p.253-258

2012

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P5.75 High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU project

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.746-746

2011

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Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers

Neurology, 2004-09, Vol.63 (6), p.1114-1117

2004

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Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

European journal of neurology, 2017-07, Vol.24 (7), p.e41-e42

2017

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Sarcoidosis and inclusion body myositis

Rheumatology (Oxford, England), 2008-09, Vol.47 (9), p.1433-1435

2008

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THU0591 CENTRAL NERVOUS SYSTEM VASCULITIS IN WHIPPLE DISEASE: A CASE REPORT

Annals of the rheumatic diseases, 2020-06, Vol.79 (Suppl 1), p.537-538

2020

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Brody syndrome: A clinically heterogeneous entity distinct from Brody disease

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.944-954

2012

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Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

Journal of neurology, neurosurgery and psychiatry, 2007-06, Vol.78 (6), p.632-634

2007

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Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C

Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.448-449

2009

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Transcriptional behavior of DMD gene duplications in DMD/BMD males

Human mutation, 2009-02, Vol.30 (2), p.E310-E319

2009

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G.P.103 Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.899-899

2012

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60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.414

2024

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Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation

Uptake and intracellular distribution of different types of nanoparticles in primary human myoblasts and myotubes

Protein Expression of Canine and Feline Muscular Dystrophies

Autoantibody testing in patients with myositis: clinical accuracy of a multiparametric line immunoassay

Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

The role of muscle biopsy in investigating isolated muscle pain

8C.05: EPOXYEICOSATRIENOIC ACIDS ARE INCREASED IN PLACENTAS OF PREECLAMPTIC PREGNANCIES

Characterization of sarcoplasmic reticulum ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

60. Dysphagia in different types of myopathy

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes

O.13 Using out-of-frame exon skipping to induce IRES-driven expression of an N-truncated dystrophin isoform for 5’ DMD mutations

Adult-Onset Muscular Dystrophy in a Cat associated with a Presumptive Alteration in Trafficking of Caveolin-3

P5.75 High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU project

Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers

Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

Sarcoidosis and inclusion body myositis

THU0591 CENTRAL NERVOUS SYSTEM VASCULITIS IN WHIPPLE DISEASE: A CASE REPORT

Brody syndrome: A clinically heterogeneous entity distinct from Brody disease

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C

Transcriptional behavior of DMD gene duplications in DMD/BMD males

G.P.103 Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients

60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies

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