53 results on '"Hackman, P."'
Search Results
2. P162 Welander distal myopathy caused by genomic deletion in the TIA1 gene
3. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features
4. P164 Development of a myotube model for C-terminal titin studies
5. P184 Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
6. VP178 Multiomics needed to increase the detection rate of myopathy patients
7. P177 Exomiser is an efficient tool to prioritize candidate genes in cohorts of unsolved myopathy patients
8. P168 The burden of titin variants on genetic counseling
9. VP.68 ACTN2: Mutation Update
10. VP.69 Natural history of tibial muscular dystrophy
11. P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in the HNRNPA1 gene
12. FP.31 ANXA11 related adult-onset muscular dystrophy in Greek families
13. NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS: O.12 Muscle biopsy and RNAseq in the diagnosis of titin related diseases
14. DISTAL MYOPATHIES: EP.76 Mutations in the prion-like domain of heterogenous nuclear ribonuclearprotein A1 (HNRNPA1) cause proximal and distal myopathies
15. P.336 - MNDcap gene panel as a diagnostic tool in motor neuron disorders
16. P.323 - Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patients
17. P.196 - Sporadic inclusion body myositis: A polygenic disorder?
18. P.24 - A possible new phenotype associated with variants in COL6A2 gene
19. P.246 - Association study reveals novel genetic risk factors associated with sporadic inclusion body myositis
20. P.247 - Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders
21. P.80 - The genetic panorama in titin gene by re-sequencing projects
22. P.78 - Titinopathies – Establishment of an international database of TTN mutations and their phenotypes
23. P.11 - A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy
24. S.O.1 - Comprehensive analysis of TTN coding regions in myopathic patients: Challenges and opportunities
25. G.O.16 - Differential isoform expression and selective muscle involvement in muscular dystrophies
26. G.P.323 - Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy
27. G.P.173 - A novel mutation in DNAJB6 causes LGMD1D in two French families
28. G.P.283: A novel mutation in DNAJB6 gene causes a very severe early-onset LGMD1D disease
29. G.P.229: The relationship of calpain 3 and titin in the M-band
30. A.P.4: Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations – An immunofluorescent analysis
31. G.P.20: A targeted next-generation sequencing panel for diagnostic use in primary myopathies
32. G.P.17: TTN a challenge for next generation sequencing
33. P.3.13 Gene expression profiling in Welander distal myopathy
34. P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity
35. G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein
36. G.P.37 Muscle immunohistochemistry and pathology in Welander distal myopathy
37. G.P.34 Gene expression profiling in tibial muscular dystrophy reveals new involved molecular pathways
38. G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations
39. D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy
40. P5.1 Overexpression of abnormal DM2 specific splice form, but not endogenous NEDD4 disrupts the turnover of PTEN in muscle
41. P2.60 Distal myopathy caused by a homozygous mutation in the titin gene
42. P3.35 Linkage of a new type of adult-onset dominant spinal motor neuronopathy to chromosome 22
43. P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population
44. P2.12 Studies of the post-mutational molecular defects underlying TMD and other muscular dystrophies through gene expression profiling
45. P1.26 Occurrence of ANO5 mutation R758C in patients with a muscular dystrophy of unknown etiology
46. G.P.10.03 Refinement of the LGMD1 locus on 7q36 by genotyping new Finnish families
47. G.P.5.07 New monoclonal antibodies against the C-terminal M10 domain of titin
48. PO19-WE-13 Autosomal dominant limb-girdle muscular dystrophy linked to chromosome 7Q36: description of a phenotype
49. G.P.14.04 Interactions of myospryn with M-band titin and calpain 3
50. D.P.3.07 Welander distal myopathy: The evasive gene
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