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Natural history of Ullrich congenital muscular dystrophy

Neurology, 2009-07, Vol.73 (1), p.25-31

2009

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Congenital muscular dystrophy: molecular and cellular aspects

Cellular and molecular life sciences : CMLS, 2005-04, Vol.62 (7-8), p.809-823

2005

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Human mutation, 2008-06, Vol.29 (6), p.809-822

2008

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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Journal of neurology, 2016-03, Vol.263 (3), p.517-523

2016

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Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Journal of neuroimmunology, 2008-09, Vol.201, p.6-12

2008

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Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Neuropathology and applied neurobiology, 2004-10, Vol.30 (5), p.540-545

2004

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Digital PCR quantification of miR-30c and miR-181a as serum biomarkers in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S159-S159

2016

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Lambert–Eaton syndrome in children, a rare unrecognized treatable neuromuscular disorder: Is there any useful feature in the muscle biopsy?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S111-S112

2016

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Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S200-S200

2016

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Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S92-S92

2016

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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.139-148

2012

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Hereditary spastic paraplegia and peroxisome biogenesis disorders: Case report of a patient with mutations in PEX10 gene

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S223-S223

2015

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A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Neuromuscular disorders : NMD, 2006-10, Vol.16 (9), p.571-582

2006

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Early onset autoimmune necrotizing myopathy associated with anti-HMGCR antibodies: An unmissable diagnosis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S249-S249

2015

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A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S287-S287

2015

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G.P.218

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.882-882

2014

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A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

Scientific reports, 2016-12, Vol.6 (1), p.1-7, Article 15

2016

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Brain (London, England : 1878), 2009-01, Vol.132 (1), p.147-155

2009

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P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.761-762

2013

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P.1.4 Gene expression profile of collagen VI deficient human fibroblasts

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.742-742

2013

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G.P.182

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.864-865

2014

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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735

2007

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P91 – 2939: A novel mutation in the TK2 gene and clinical phenotype in Spanish patients

European journal of paediatric neurology, 2015-05, Vol.19, p.S119-S120

2015

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P.17.6 Globular inclusions are a frequent finding in infantile Pompe’s disease

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.828-828

2013

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P.15.11 Megaconial congenital muscular dystrophy in two children with mutations in the CHKB Gene

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.822-822

2013

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Natural history of Ullrich congenital muscular dystrophy

Congenital muscular dystrophy: molecular and cellular aspects

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers in Duchenne muscular dystrophy

Lambert–Eaton syndrome in children, a rare unrecognized treatable neuromuscular disorder: Is there any useful feature in the muscle biopsy?

Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings

Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Hereditary spastic paraplegia and peroxisome biogenesis disorders: Case report of a patient with mutations in PEX10 gene

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Early onset autoimmune necrotizing myopathy associated with anti-HMGCR antibodies: An unmissable diagnosis

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations

G.P.218

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

P.1.4 Gene expression profile of collagen VI deficient human fibroblasts

G.P.182

Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

P91 – 2939: A novel mutation in the TK2 gene and clinical phenotype in Spanish patients

P.17.6 Globular inclusions are a frequent finding in infantile Pompe’s disease

P.15.11 Megaconial congenital muscular dystrophy in two children with mutations in the CHKB Gene

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