| scholarly article | Q13442814 |
| P356 | DOI | 10.1001/ARCHNEUR.64.8.1176 |
| P698 | PubMed publication ID | 17698709 |
| P50 | author | Dominique Figarella-Branger | Q40379595 |
| P2093 | author name string | Nicolas Lévy | |
| Norma Romero | |||
| Jean Pouget | |||
| Bruno Eymard | |||
| Pascal Laforêt | |||
| Shahram Attarian | |||
| Jon Andoni Urtizberea | |||
| Martin Krahn | |||
| Rafaelle Bernard | |||
| Véronique Labelle | |||
| Guillaume Bassez | |||
| Karine Nguyen | |||
| France Leturcq | |||
| P433 | issue | 8 | |
| P921 | main subject | patient | Q181600 |
| P304 | page(s) | 1176-1182 | |
| P577 | publication date | 2007-08-01 | |
| P1433 | published in | Archives of Neurology | Q15766672 |
| P1476 | title | Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes | |
| P478 | volume | 64 |
| Q33685709 | A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy |
| Q45863762 | A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. |
| Q34390012 | A new distal myopathy with mutation in anoctamin 5. |
| Q35204883 | AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models |
| Q54520022 | Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model. |
| Q38102654 | Asymptomatic/pauci-symptomatic creatine kinase elevations (hyperckemia). |
| Q37183967 | Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy |
| Q33737380 | Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity |
| Q57814514 | Autoimmune Myopathies: Updates on Evaluation and Treatment |
| Q31032086 | Axial myopathy: an overlooked feature of muscle diseases. |
| Q30552419 | Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement. |
| Q33593461 | C. elegans dysferlin homolog fer-1 is expressed in muscle, and fer-1 mutations initiate altered gene expression of muscle enriched genes |
| Q47151608 | Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy. |
| Q36677328 | Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. |
| Q38253968 | Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? |
| Q31043843 | Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| Q92155229 | Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains |
| Q90821719 | Deficiency of nuclear receptor interaction protein leads to cardiomyopathy by disrupting sarcomere structure and mitochondrial respiration |
| Q41626249 | Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis |
| Q39751162 | Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation |
| Q58380542 | Diagnostic Approach to Pauci- or Asymptomatic hyperCKemia |
| Q37291986 | Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy |
| Q43727404 | Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. |
| Q36085192 | Dysferlin and animal models for dysferlinopathy |
| Q36482213 | Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. |
| Q36943096 | Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. |
| Q43280975 | Dysferlin deficiency treated like refractory polymyositis |
| Q39015003 | Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites |
| Q35607518 | Dysferlinopathy course and sportive activity: clues for possible treatment |
| Q36131039 | Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects |
| Q44454174 | Dysferlinopathy presenting as rhabdomyolysis and acute renal failure |
| Q43093849 | EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia |
| Q45855450 | Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping |
| Q35987272 | Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption |
| Q55452781 | Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. |
| Q37589627 | Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells |
| Q27022787 | Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair |
| Q92501855 | Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B |
| Q42270238 | Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells |
| Q35753474 | GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice |
| Q34054658 | GREG cells, a dysferlin-deficient myogenic mouse cell line |
| Q53165694 | Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy. |
| Q34360151 | Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice |
| Q38213016 | Genetic basis of limb-girdle muscular dystrophies: the 2014 update |
| Q104283370 | Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients |
| Q35859252 | Heterogeneous characteristics of Korean patients with dysferlinopathy |
| Q59129603 | Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy |
| Q40663721 | Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report |
| Q37385146 | Lower limb radiology of distal myopathy due to the S60F myotilin mutation |
| Q38269189 | Membrane Injury and Repair in the Muscular Dystrophies. |
| Q36146335 | Membrane Repair: Mechanisms and Pathophysiology. |
| Q38689523 | Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function |
| Q52373051 | Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. |
| Q56969254 | Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials |
| Q42209023 | Muscle membrane repair and inflammatory attack in dysferlinopathy. |
| Q38553524 | Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations |
| Q52096875 | Mutations in GMPPB Presenting with Pseudometabolic Myopathy. |
| Q34276598 | Myopathic causes of exercise intolerance with rhabdomyolysis |
| Q57389951 | Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis |
| Q34289381 | New aspects on patients affected by dysferlin deficient muscular dystrophy |
| Q38195295 | New developments in exon skipping and splice modulation therapies for neuromuscular diseases |
| Q33833512 | Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. |
| Q93098955 | Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells |
| Q36785977 | Plasma Membrane Repair in Health and Disease |
| Q41438850 | Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? |
| Q38838661 | Prenatal diagnosis of congenital myopathies and muscular dystrophies. |
| Q38921880 | Progress and challenges in diagnosis of dysferlinopathy |
| Q34154200 | Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells |
| Q90431791 | Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies |
| Q51620573 | Respiratory and cardiac function in japanese patients with dysferlinopathy. |
| Q37197499 | The Clinical Outcome Study for dysferlinopathy: An international multicenter study |
| Q33808490 | The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. |
| Q47681679 | The relative frequency of common neuromuscular diagnoses in a reference center |
| Q47590506 | The same answer using a simpler method: diagnosis in dysferlin muscle disease |
| Q37455625 | Therapeutic advances in muscular dystrophy |
| Q41031806 | Toward an objective measure of functional disability in dysferlinopathy |
| Q37873747 | Translational research and therapeutic perspectives in dysferlinopathies. |
| Q37685396 | Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. |
| Q39668411 | UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene |
| Q88831769 | Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? |
| Q40902757 | Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). |
| Q53739549 | ["Therapy-resistant polymyositis" - is the diagnosis correct?] |
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