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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Neurology, 2004-09, Vol.63 (6), p.1053-1058

2004

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Nature genetics, 1998-04, Vol.18 (4), p.365-368

1998

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

Neurology, 2000-03, Vol.54 (6), p.1373

2000

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Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

Neurology, 1996-05, Vol.46 (5), p.1354-1354

1996

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Self-perception of oral health in the elderly associated with health literacy and related factors

European journal of public health, 2020-09, Vol.30 (Supplement_5)

2020

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Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

Neurology, 1998-01, Vol.50 (1), p.296-298

1998

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What details are needed for wireless simulations? - A study of a site-specific indoor wireless model

2012 Proceedings IEEE INFOCOM, 2012, p.289-297

2012

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A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

Neuromuscular disorders : NMD, 1999-10, Vol.9 (6), p.403-407

1999

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Nicotine exerts a permissive role on NMDA receptor function in hippocampal noradrenergic terminals

Neuropharmacology, 2004-07, Vol.47 (1), p.65-71

2004

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Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

Neuromuscular disorders : NMD, 1998-02, Vol.8 (1), p.3-6

1998

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Increased Number of Caveolae and Caveolin-3 Overexpression in Duchenne Muscular Dystrophy

Biochemical and biophysical research communications, 1999-08, Vol.261 (3), p.547-550

1999

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Auriculo-condylar syndrome or new syndrome?

Clinical dysmorphology, 2002-04, Vol.11 (2), p.143-144

2002

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Severe dystrophinopathy in a patient with congenital hypotonia

Child's nervous system, 1996-08, Vol.12 (8), p.466-469

1996

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Diagnostic problems in congenital myotonic dystrophy

European journal of pediatrics, 1996-11, Vol.155 (11), p.995-995

1996

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Mitochondrial activity of orbicularis oris muscle in unilateral cleft lip patients

Plastic and reconstructive surgery (1963), 1998-09, Vol.102 (4), p.968-971

1998

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Induction of differentiation and apoptosis by interferon-gamma in human neuroblastoma cells in vitro as a dual and alternative early biological response

Cell death and differentiation, 1997-02, Vol.4 (2), p.150-158

1997

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

Neurology, 2000-03, Vol.54 (6), p.1373-1376

2000

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Primary AMP deaminase deficiency in childhood

Neuromuscular disorders : NMD, 1997-09, Vol.7 (6), p.449-450

1997

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Role of ubiquitin in myosin degradation of acute steroid myopathy

Journal of neuroimmunology, 1994-10, Vol.54 (1), p.183-183

1994

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The bone microenvironment invigorates metastatic seeds for further dissemination

Cell, 2021-04, Vol.184 (9), p.2471-2486.e20

2021

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Effects of diclofenac on sentinel species and aquatic communities in semi-natural conditions

Ecotoxicology and environmental safety, 2021-03, Vol.211, p.111812, Article 111812

2021

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Sand fly synthetic sex-aggregation pheromone co-located with insecticide reduces the incidence of infection in the canine reservoir of visceral leishmaniasis: A stratified cluster randomised trial

PLoS neglected tropical diseases, 2019-10, Vol.13 (10), p.e0007767

2019

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Novel clinically relevant antibiotic resistance genes associated with sewage sludge and industrial waste streams revealed by functional metagenomic screening

Environment international, 2019-11, Vol.132, p.105120, Article 105120

2019

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Deviations from a typical development of the cerebellum in youth are associated with psychopathology, executive functions and educational outcomes

Psychological medicine, 2023-09, Vol.53 (12), p.5698-5708

2023

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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

Self-perception of oral health in the elderly associated with health literacy and related factors

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

What details are needed for wireless simulations? - A study of a site-specific indoor wireless model

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

Nicotine exerts a permissive role on NMDA receptor function in hippocampal noradrenergic terminals

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

Increased Number of Caveolae and Caveolin-3 Overexpression in Duchenne Muscular Dystrophy

Auriculo-condylar syndrome or new syndrome?

Severe dystrophinopathy in a patient with congenital hypotonia

Diagnostic problems in congenital myotonic dystrophy

Mitochondrial activity of orbicularis oris muscle in unilateral cleft lip patients

Induction of differentiation and apoptosis by interferon-gamma in human neuroblastoma cells in vitro as a dual and alternative early biological response

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

Primary AMP deaminase deficiency in childhood

Role of ubiquitin in myosin degradation of acute steroid myopathy

Impaired Aryl Hydrocarbon Receptor Ligand Production by the Gut Microbiota Is a Key Factor in Metabolic Syndrome

The bone microenvironment invigorates metastatic seeds for further dissemination

Effects of diclofenac on sentinel species and aquatic communities in semi-natural conditions

Sand fly synthetic sex-aggregation pheromone co-located with insecticide reduces the incidence of infection in the canine reservoir of visceral leishmaniasis: A stratified cluster randomised trial

Novel clinically relevant antibiotic resistance genes associated with sewage sludge and industrial waste streams revealed by functional metagenomic screening

Deviations from a typical development of the cerebellum in youth are associated with psychopathology, executive functions and educational outcomes

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