Research database for dystrophin gene and protein expression. 35th ENMC Workshop, 6-8 October 1995, Naarden, The Netherlands

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

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Dysferlin protein analysis in limb-girdle muscular dystrophies.

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Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

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

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Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study.

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Clinical associations of pain in an international facioscapulohumeral muscular dystrophy cohort.

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Research square·2026

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Related Experiment Videos

Research database for dystrophin gene and protein expression. 35th ENMC Workshop, 6-8 October 1995, Naarden, The

Related Concept Videos

Late onset in dysferlinopathy widens the clinical spectrum.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

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

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

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

Lower urinary tract dysfunction in adults with myotonic dystrophy type 1: a multimodal clinical assessment.

Nemaline myopathy patient and caregiver perspectives: a multinational cross-sectional study.

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.

Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study.

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Clinical associations of pain in an international facioscapulohumeral muscular dystrophy cohort.

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A comparative single-cell transcriptomic atlas for diverse populations of vertebrate hair cells.

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Related Experiment Videos

Research database for dystrophin gene and protein expression. 35th ENMC Workshop, 6-8 October 1995, Naarden, The...

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Research database for dystrophin gene and protein expression. 35th ENMC Workshop, 6-8 October 1995, Naarden, The