197 results on '"Jokela, Manu"'
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2. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
3. Distal myopathy
4. Adult motor neuron disease death rates in Finland 1998–2019
5. Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
6. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial
7. NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
8. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
9. Genotype–phenotype correlations in recessive titinopathies
10. Mutations in the J domain of DNAJB6 cause dominant distal myopathy
11. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
12. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
13. Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
14. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
15. A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
16. A retrospective study of accuracy and usefulness of electrophysiological exercise tests
17. Botulinum toxin alleviates dysphagia of patients with inclusion body myositis
18. Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation
19. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
20. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy
21. Anoctamin-5 related muscle disease:clinical and genetic findings in a large European cohort
22. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
23. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
24. Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis
25. Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort
26. Amyotrophic Lateral Sclerosis in Southwestern and Eastern Finland
27. Chapter 20 - Distal myopathy
28. Late-onset spinal motor neuronopathy – A common form of dominant SMA
29. The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum
30. Adult motor neuron disease death rates in Finland 1998–2019
31. Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy
32. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy
33. The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
34. Repeat expansion size predicts age of onset in RFC1 CANVAS and disease spectrum (S29.005)
35. CANVAS - tasapainovaikeuksien ja kroonisen yskän mahdollinen aiheuttaja
36. CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients
37. Incidence and prevalence of amyotrophic lateral sclerosis in Southwestern and Eastern Finland
38. Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
39. CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
40. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
41. Multiple cranial nerve gadolinium enhancement in Norrie disease
42. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial
43. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10
44. Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
45. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
46. Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation
47. Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
48. Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
49. Metabolic and muscle-derived serum biomarkers define CHCHD10-linked late-onset spinal muscular atrophy
50. Särö-X-esimutaatio-oireyhtymä (FXTAS) : magneettikuvauksesta apua diagnosointiin
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