Publications in OpenAlex of which a co-author is affiliated to this organization
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| Title | DOI |
|---|---|
| https://doi.org/10.1159/000369343 | Prevalence of Muscular Dystrophies: A Systematic Literature Review |
| https://doi.org/10.1056/nejm198905183202001 | Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome |
| https://doi.org/10.1016/0092-8674(93)90058-x | DNA deletion associated with hereditary neuropathy with liability to pressure palsies |
| https://doi.org/10.1038/344540a0 | Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3 |
| https://doi.org/10.1038/nm1085 | Systemic delivery of genes to striated muscles using adeno-associated viral vectors |
| https://doi.org/10.1378/chest.112.4.1024 | Prevention of Pulmonary Morbidity for Patients With Duchenne Muscular Dystrophy |
| https://doi.org/10.1002/ana.24555 | Longitudinal effect of eteplirsen versus historical control on ambulation in |
| https://doi.org/10.1038/nm1345 | Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology |
| https://doi.org/10.1212/wnl.52.8.1658 | A 10-year study of mortality in a cohort of patients with myotonic dystrophy |
| https://doi.org/10.1016/0960-8966(92)90045-8 | MELAS: An original case and clinical criteria for diagnosis |
| https://doi.org/10.1038/nm1439 | rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice |
| https://doi.org/10.1126/scitranslmed.aan8081 | Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy |
| https://doi.org/10.1038/s41467-018-05843-9 | Cas9 immunity creates challenges for CRISPR gene editing therapies |
| https://doi.org/10.1056/nejmoa070174 | Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis |
| https://doi.org/10.3233/jnd-180304 | Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening |
| https://doi.org/10.1038/s41556-017-0010-2 | ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs |
| https://doi.org/10.1038/mt.2008.103 | Recombinant Adeno-associated Virus Transduction and Integration |
| https://doi.org/10.1016/j.bbadis.2006.05.013 | Myotonic dystrophy: Emerging mechanisms for DM1 and DM2 |
| https://doi.org/10.1378/chest.07-0458 | American College of Chest Physicians Consensus Statement on the Respiratory and Related Management of Patients With Duchenne Muscular Dystrophy Undergoing Anesthesia or Sedation |
| https://doi.org/10.1083/jcb.201006025 | MyoD regulates apoptosis of myoblasts through microRNA-mediated down-regulation of Pax3 |
| https://doi.org/10.1212/wnl.0000000000003217 | Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy |
| https://doi.org/10.1002/mus.23942 | Cost of illness for neuromuscular diseases in the United States |
| https://doi.org/10.1002/mus.23831 | Corticosteroids in Duchenne muscular dystrophy: Major variations in practice |
| https://doi.org/10.1093/hmg/ddz181 | Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinases |
| https://doi.org/10.1371/journal.pone.0097803 | Safety, Pharmacokinetic, and Functional Effects of the Nogo-A Monoclonal Antibody in Amyotrophic Lateral Sclerosis: A Randomized, First-In-Human Clinical Trial |
| https://doi.org/10.4300/jgme-d-18-00979.3 | A Narrative Review of the Evidence Supporting Factors Used by Residency Program Directors to Select Applicants for Interviews |
| https://doi.org/10.1002/humu.23561 | DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype |
| https://doi.org/10.3109/17482960903358865 | Toward more efficient clinical trials for amyotrophic lateral sclerosis |
| https://doi.org/10.1111/ene.16229 | Generalized myasthenia gravis with acetylcholine receptor antibodies: A guidance for treatment |
| https://doi.org/10.1089/hum.2012.208 | Prolonged Gene Expression in Muscle Is Achieved Without Active Immune Tolerance Using MicrorRNA 142.3p-Regulated rAAV Gene Transfer |
| https://doi.org/10.1038/s41586-024-07710-8 | Split intein-mediated protein trans-splicing to express large dystrophins |
| https://doi.org/10.2217/bmm-2018-0125 | Cardiac MRI biomarkers for Duchenne muscular dystrophy |
| https://doi.org/10.3233/jnd-221639 | Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’ |
| https://doi.org/10.1038/s42003-022-03938-0 | Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue |
| https://doi.org/10.1172/jci171235 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features |
| https://doi.org/10.1016/j.asj.2008.04.009 | Lipodystrophy in the Patient with HIV: Social, Psychological, and Treatment Considerations |
| https://doi.org/10.1038/s41582-024-00961-z | The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology |
| https://doi.org/10.1038/s41467-022-34694-8 | Impaired mitochondrial oxidative metabolism in skeletal progenitor cells leads to musculoskeletal disintegration |
| https://doi.org/10.1074/jbc.m111.271767 | Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan |
| https://doi.org/10.1111/resp.12836 | Effects of positive end expiratory pressure administration during non‐invasive ventilation in patients affected by amyotrophic lateral sclerosis: A randomized crossover study |
| https://doi.org/10.18071/isz.76.0005 | Characteristics of stroke-like lesions on cerebral imaging |
| https://doi.org/10.1212/wnl.0000000000213604 | Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus |
| https://doi.org/10.1001/jamaneurol.2019.1206 | Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening |
| https://doi.org/10.1016/j.cell.2024.08.047 | Saturation mutagenesis-reinforced functional assays for disease-related genes |
| https://doi.org/10.1016/j.omtn.2025.102759 | Genetic strategies for therapy of Duchenne muscular dystrophy |
| https://doi.org/10.1073/pnas.2515267122 | Precise gene editing of pathogenic Lamin A mutations corrects cardiac disease |
| https://doi.org/10.1212/wnl.0000000000214291 | Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy |
| https://doi.org/10.1016/0960-8966(93)90040-q | Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA |
| https://doi.org/10.1056/nejm199307223290404 | Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease) |
| https://doi.org/10.1016/0960-8966(94)00079-o | A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene |
| https://doi.org/10.1016/s0278-2391(03)00668-2 | Office-based ambulatory anesthesia: outcomes of clinical practice of oral and maxillofacial surgeons |
| https://doi.org/10.1093/ptj/64.1.41 | Clinical Trials in Duchenne Dystrophy |
| https://doi.org/10.1093/ptj/74.3.253 | Facioscapulohumeral Dystrophy Natural History Study: Standardization of Testing Procedures and Reliability of Measurements |
| https://doi.org/10.1212/wnl.38.3.405 | Use of composite scores (megascores) to measure deficit in amyotrophic lateral sclerosis |
| https://doi.org/10.1093/ptj/65.9.1339 | Reliability of Goniometric Measurements in Patients with Duchenne Muscular Dystrophy |
| https://doi.org/10.1177/088307380101600104 | Spasticity Management: An Overview |
| https://doi.org/10.1073/pnas.0708145104 | Increased survival of muscle stem cells lacking the MyoD gene after transplantation into regenerating skeletal muscle |
| https://doi.org/10.1038/mt.2008.149 | Microutrophin Delivery Through rAAV6 Increases Lifespan and Improves Muscle Function in Dystrophic Dystrophin/Utrophin-deficient Mice |
| Role of astrocytes in the control of developing retinal vessels. | |
| https://doi.org/10.1002/ana.410330114 | Glycogen branching enzyme deficiency in adult polyglucosan body disease |
| https://doi.org/10.1097/01.mop.0000193294.94646.be | Recent developments in tissue engineering and regenerative medicine |
| https://doi.org/10.3791/51586 | Tissue Triage and Freezing for Models of Skeletal Muscle Disease |
| https://doi.org/10.1177/0883073810371001 | Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy |
| https://doi.org/10.1016/j.ncl.2011.01.004 | Pediatric Multiple Sclerosis |
| https://doi.org/10.1038/sj.gt.3302505 | Stable transduction of myogenic cells with lentiviral vectors expressing a minidystrophin |
| https://doi.org/10.1016/j.ymthe.2005.11.001 | Gene Therapy Strategies for Duchenne Muscular Dystrophy Utilizing Recombinant Adeno-associated Virus Vectors |
| https://doi.org/10.1371/journal.pgen.1000958 | The Polyproline Site in Hinge 2 Influences the Functional Capacity of Truncated Dystrophins |
| https://doi.org/10.1017/s1462399409001100 | Emerging strategies for cell and gene therapy of the muscular dystrophies |
| https://doi.org/10.1016/j.ymthe.2005.04.001 | Phenotypic Improvement of Dystrophic Muscles by rAAV/Microdystrophin Vectors Is Augmented by Igf1 Codelivery |
| https://doi.org/10.1042/bj20051965 | Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein |
| https://doi.org/10.1016/j.mcn.2008.12.011 | Truncated dystrophins can influence neuromuscular synapse structure |
| https://doi.org/10.1186/2044-5040-3-1 | Sarcospan: a small protein with large potential for Duchenne muscular dystrophy |
| https://doi.org/10.1111/ddg.12909 | Guidelines on dermatomyositis – excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology |
| https://doi.org/10.1002/ana.21213 | Molecular consequences of dominant Bethlem myopathy collagen VI mutations |
| https://doi.org/10.1038/mt.2009.253 | Dystrophin Delivery to Muscles of mdx Mice Using Lentiviral Vectors Leads to Myogenic Progenitor Targeting and Stable Gene Expression |
| https://doi.org/10.1177/1049909110369531 | Cannabis and Amyotrophic Lateral Sclerosis: Hypothetical and Practical Applications, and a Call for Clinical Trials |
| https://doi.org/10.1177/104990910101800411 | Marijuana in the management of amyotrophic lateral sclerosis |
| https://doi.org/10.1002/jmri.21941 | MR imaging in Duchenne muscular dystrophy: Quantification of T1‐weighted signal, contrast uptake, and the effects of exercise |
| https://doi.org/10.1002/(sici)1097-4598(199606)19:6<777::aid-mus15>3.0.co;2-i | Assessment of whole body composition with dual energy X-ray absorptiometry in Duchenne muscular dystrophy: Correlation of lean body mass with muscle function |
| https://doi.org/10.1111/j.1600-0854.2007.00622.x | rAAV6‐Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles |
| https://doi.org/10.1093/hmg/ddm158 | Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain |
| https://doi.org/10.1093/hmg/ddq334 | Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased vasculature in mdx mice |
| https://doi.org/10.1111/j.1600-9657.2008.00745.x | The use of calcium hydroxide and mineral trioxide aggregate on apexification of a replanted tooth: a case report |
| https://doi.org/10.1186/2044-5040-3-20 | Increased sphingosine-1-phosphate improves muscle regeneration in acutely injured mdx mice |
| https://doi.org/10.1177/1049909109358420 | Assessment and Management of Fatigue in Neuromuscular Disease |
| Early signs of gait deviation in Duchenne muscular dystrophy. | |
| https://doi.org/10.1016/j.clineuro.2011.10.022 | Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy |
| https://doi.org/10.1007/s00439-013-1302-7 | Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes |
| https://doi.org/10.1016/j.nurx.2006.01.005 | Therapeutics in Duchenne muscular dystrophy |
| https://doi.org/10.1002/ana.21556 | Outcomes research in amyotrophic lateral sclerosis: Lessons learned from the amyotrophic lateral sclerosis clinical assessment, research, and education database |
| https://doi.org/10.1056/nejmcibr042889 | Cachexia in Cancer — Zeroing in on Myosin |
| https://doi.org/10.1080/21678421.2017.1406953 | A spatial analysis of amyotrophic lateral sclerosis (ALS) cases in the United States and their proximity to multidisciplinary ALS clinics, 2013 |
| https://doi.org/10.1038/s41467-018-05910-1 | NF-κB inhibition rescues cardiac function by remodeling calcium genes in a Duchenne muscular dystrophy model |
| https://doi.org/10.4049/jimmunol.179.7.4939 | Autoantibodies in Canine Masticatory Muscle Myositis Recognize a Novel Myosin Binding Protein-C Family Member |
| https://doi.org/10.1016/j.pmr.2011.11.016 | Skeletal Muscle Edema in Muscular Dystrophy: Clinical and Diagnostic Implications |
| https://doi.org/10.1093/hmg/ddn301 | Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin |
| https://doi.org/10.1038/s41467-019-12335-x | In vivo non-invasive monitoring of dystrophin correction in a new Duchenne muscular dystrophy reporter mouse |
| https://doi.org/10.1097/ede.0000000000000376 | Military Service and Amyotrophic Lateral Sclerosis in a Population-based Cohort |
| https://doi.org/10.3174/ajnr.a1236 | Endovascular Interventions following Intravenous Thrombolysis May Improve Survival and Recovery in Patients with Acute Ischemic Stroke: A Case-Control Study |
| https://doi.org/10.1172/jci.insight.123855 | Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy |