84 results on '"Pestronk, A"'
Search Results
2. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
3. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
4. Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathies.
5. Cystinosis distal myopathy, novel clinical, pathological and genetic features
6. Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
7. Autophagic vacuolar pathology in desminopathies
8. Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy
9. Clinical and genetic characterization of manifesting carriers of DMD mutations
10. Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia
11. Inflammatory myopathies with mitochondrial pathology and protein aggregates
12. P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy
13. FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
14. LGMD: EP.182 Quality of life in dysferlinopathy can be good despite poor function
15. Increased incidence of paraproteinemia and autoantibodies in patients with normal-pressure glaucoma
16. Novel GNE mutations in two phenotypically distinct HIBM2 patients
17. The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year
18. P.292 - Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotype
19. P.160 - Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy
20. G.P.8 - An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease
21. Dystrophinopathy mimicking metabolic myopathies
22. Sarcoidosis, granulomas and myopathy syndromes: A clinical-pathology review.
23. G.O.27: Randomized controlled phase 2 study of GNE myopathy subjects treated with placebo, 6 g or 3 g doses of extended-release sialic acid (SA-ER) and an extension study at a higher 12 g dose of combination extended and immediate release sialic acid (SA)
24. T.P.24: Alglucosidase alfa reduces lysosomal glycogen in skeletal muscle biopsies of patients with late-onset Pompe disease (LOPD)
25. P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
26. P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence
27. P.3.5 Identification of rare variants in GNE and other sialic biosynthetic genes in HIBM2 and sIBM
28. I.I.1 Myopathologic classification of acquired immune and inflammatory myopathies
29. An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study.
30. T.O.4 Safety and efficacy results from a randomized, double-blind, placebo-controlled study of alglucosidase alfa for the treatment of Pompe disease in juveniles and adults
31. T.P.5.04 Randomized, double-blind, controlled study to compare efficacy and tolerability of standard daily prednisone regime with a novel intermittent high dose regime in ambulant boys with Duchenne muscular dystrophy
32. G.P.11.06 Pharmacological chaperone therapy for Pompe disease: Phase 1 clinical trials and ex vivo response study results
33. T.P.1.01 Use of the 6 min walk test as an endpoint in clinical trials for neuromuscular diseases
34. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
35. Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.
36. 93P The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort.
37. 81P Minimal clinically important differences in dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study.
38. Serum antibodies to heparan sulfate glycosaminoglycans in Guillain–Barré syndrome and other demyelinating polyneuropathies
39. Autoantibodies to GM1 ganglioside: different reactivity to GM1-liposomes in amyotrophic lateral sclerosis and lower motor neuron disorders
40. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
41. G.P.13.04 IBMPFD mutations in p97/VCP cause the accumulation of ubiquitinated proteins via impairment in the ubiquitin-proteasome pathway
42. M.P.2.04 The use of a comprehensive battery for the assessment of muscle strength and function in late onset Pompe disease
43. N.P.3 06 In vitro analysis of MFN2 mutations associated with Charcot-Marie-Tooth disease
44. G.P.1 01 Clinical presentation and disease progression in late-onset Pompe disease
45. Paraneoplastic myopathy: response to intravenous immunoglobulin
46. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
47. Complement 3 deficiency and oral prednisolone improve strength and prolong survival of laminin α2-deficient mice
48. An unusual pathologic feature associated with dermatomyositis
49. LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.13Rasch analysis of the individualised neuromuscular Quality of Life Questionnaire administered to patients with dysferlinopathy.
50. LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.12Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.