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1. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

3. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects

4. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

5. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

6. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

7. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

9. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

10. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

11. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

12. Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

13. Genome Sequencing for Diagnosing Rare Diseases

14. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

15. Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

17. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

18. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

19. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

20. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

21. Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

22. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

23. Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

24. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

26. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

27. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

28. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

30. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

32. Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes

33. Unique genotypic pattern in Indian DPAGT1 congenital myasthenic syndrome patients with two likely founder mutations

34. Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis

36. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

37. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

39. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

41. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

42. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

43. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

45. Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

46. Molecular characterization of congenital myasthenic syndromes in Spain

48. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

49. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

50. Neuromuscular disease genetics in under-represented populations: increasing data diversity

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