The limb-girdle muscular dystrophies [directory]

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.

Annals of neurology·2001

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.

Neuromuscular disorders : NMD·2001

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Neuromuscular disorders : NMD·2001

Dysferlin and muscular dystrophy.

Acta neurologica Belgica·2000

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Neuromuscular disorders : NMD·2000

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Journal of medical genetics·2000

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Paradoxical reactions in pediatric HIV-negative CNS tuberculosis: A longitudinal cohort study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Enhancing epilepsy and seizure first aid awareness in polish youth: The impact of targeted educational programs.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Effect of extracorporeal shock wave therapy (ESWT) on gastrocnemius muscle spasticity among cerebral palsy children: A randomised controlled trial with sonographic evidence.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Total bilirubin-to-albumin ratio and systemic immune inflammation index as prognostic indicators in children with febrile infection-related epilepsy syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

SCN1A-related epilepsy with spike-wave activation in sleep: A retrospective cohort and literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Dataset on the solution to the guaranteed-service time inventory model across 38 real-world supply chains with normally distributed demand.

Data in brief·2026

Barriers of last mile supply chain management and reproductive, maternal, new born, and child health product availability in Ethiopia.

PloS one·2026

An empirical network study of the antimalarial supply chain in Ghana.

PloS one·2026

Related Experiment Videos

The limb-girdle muscular dystrophies [directory]

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A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Dysferlin and muscular dystrophy.

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Paradoxical reactions in pediatric HIV-negative CNS tuberculosis: A longitudinal cohort study.

Enhancing epilepsy and seizure first aid awareness in polish youth: The impact of targeted educational programs.

Effect of extracorporeal shock wave therapy (ESWT) on gastrocnemius muscle spasticity among cerebral palsy children: A randomised controlled trial with sonographic evidence.

Total bilirubin-to-albumin ratio and systemic immune inflammation index as prognostic indicators in children with febrile infection-related epilepsy syndrome.

SCN1A-related epilepsy with spike-wave activation in sleep: A retrospective cohort and literature review.

Dataset on the solution to the guaranteed-service time inventory model across 38 real-world supply chains with normally distributed demand.

An "Early Warning" Risk Assessment Strategy to Enable Proactive Management of Supply Shortages in Canada.

Cyberattacks in supply chains: A multi-case study.

Quantitative assessment of supply chain performance drivers through structural equation modelling approach.

Barriers of last mile supply chain management and reproductive, maternal, new born, and child health product availability in Ethiopia.

An empirical network study of the antimalarial supply chain in Ghana.

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The limb-girdle muscular dystrophies [directory]

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