Publications in OpenAlex of which a co-author is affiliated to this organization
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| Title | DOI |
|---|---|
| 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/10.1378/chest.112.4.1024 | Prevention of Pulmonary Morbidity for Patients With Duchenne Muscular Dystrophy |
| https://doi.org/10.1002/ar.1091820207 | Regeneration of single skeletal muscle fibers in vitro |
| 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/10.1378/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/10.1212/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/10.3109/17482960903358865 | Toward more efficient clinical trials for amyotrophic lateral sclerosis |
| https://doi.org/10.1002/mus.25712 | Improving symptom management for people with amyotrophic lateral sclerosis |
| 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/s41582-024-00961-z | The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology |
| https://doi.org/10.1212/wnl.0000000000213604 | Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus |
| https://doi.org/10.1016/j.nmd.2025.106208 | Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy |
| https://doi.org/10.1213/00000539-198010000-00003 | Myotoxicity of Local Anesthetics and Regeneration of the Damaged Muscle Fibers |
| https://doi.org/10.1212/wnl.47.4_suppl_2.71s | Natural history of ALS |
| https://doi.org/10.1097/00002281-200311000-00008 | Oxidative Stress: a common denominator in the pathogenesis of amyotrophic lateral sclerosis |
| 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/10.1177/1049909110369531 | 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/10.1177/1049909109358420 | Assessment and Management of Fatigue in Neuromuscular Disease |
| Early signs of gait deviation in Duchenne muscular dystrophy. | |
| https://doi.org/10.1016/j.nurx.2006.01.005 | Therapeutics in Duchenne muscular dystrophy |
| 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/10.1016/j.pmr.2011.11.016 | Skeletal Muscle Edema in Muscular Dystrophy: Clinical and Diagnostic Implications |
| https://doi.org/10.1016/j.nmd.2018.06.005 | Sensitivity and clinical utility of the anti-cytosolic 5′-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center |
| https://doi.org/10.1136/medethics-2016-103917 | Fair, just and compassionate: A pilot for making allocation decisions for patients requesting experimental drugs outside of clinical trials |
| https://doi.org/10.1016/j.cell.2024.08.047 | Saturation mutagenesis-reinforced functional assays for disease-related genes |
| https://doi.org/10.3233/jnd-240002 | Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’ |
| https://doi.org/10.1002/mus.28313 | The Economic Burden of Myasthenia Gravis ( MG ): A Survey of Affected People and Their Families |
| https://doi.org/10.1161/01.res.72.2.349 | Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. |
| https://doi.org/10.1016/s0021-9258(18)99009-5 | Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6 |
| https://doi.org/10.1016/s0021-9258(18)45651-7 | Purification of the Ca2+-dependent proteinase inhibitor from bovine cardiac muscle and its interaction with the millimolar Ca2+-dependent proteinase. |
| https://doi.org/10.1097/01.mou.0000232055.20084.f6 | Recent applications of regenerative medicine to urologic structures and related tissues |
| https://doi.org/10.1097/gim.0b013e3181ef6079 | Carrier testing for spinal muscular atrophy |
| https://doi.org/10.1186/s13023-018-0889-0 | Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease |
| https://doi.org/10.1002/mus.25185 | Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal |
| https://doi.org/10.1016/j.pmr.2011.11.001 | Hypohomocysteinemia: A Potentially Treatable Cause of Peripheral Neuropathology? |
| 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/10.1212/wnl.0b013e318282334e | Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? |
| https://doi.org/10.1089/hum.2014.147 | Perspectives on Best Practices for Gene Therapy Programs |
| https://doi.org/10.3109/21678421.2013.778588 | Funding agencies and disease organizations: Resources and recommendations to facilitate ALS clinical research |
| https://doi.org/10.1016/s0021-9258(17)44194-9 | Spontaneous calcium release from sarcoplasmic reticulum. Effect of local anesthetics. |
| https://doi.org/10.1016/0027-5107(86)90121-1 | Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical |
| https://doi.org/10.1002/mus.880140603 | Effect of dantrolene in duchenne muscular dystrophy |
| https://doi.org/10.2460/ajvr.1999.60.06.734 | Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele |
| https://doi.org/10.1007/bf00218376 | Shape and disposition of clefts, tubules, and sarcoplasmic reticulum in long and short sarcomere fibers of crab and crayfish |
| Drug therapy for amyotrophic lateral sclerosis: Where are we now? | |
| https://doi.org/10.1371/journal.pone.0001254 | Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery |
| https://doi.org/10.1016/j.nmd.2018.02.002 | Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers |
| https://doi.org/10.1080/17483107.2017.1413143 | Survey of the functional priorities in patients with disability due to neuromuscular disorders |
| https://doi.org/10.3390/ijns4010006 | Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations |
| https://doi.org/10.1038/s41436-018-0086-5 | MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases |
| https://doi.org/10.1002/mus.21939 | Trauma, TDP‐43, and amyotrophic lateral sclerosis |
| https://doi.org/10.1177/22143602251364325 | Meeting report: 2024 Muscular Dystrophy Association summit on ‘Safety and challenges in gene therapy of neuromuscular diseases’ |
| https://doi.org/10.1016/s0021-9258(19)86004-0 | Characterization of a cyclic AMP-binding protein from bakers' yeast. Identification as a regulatory subunit of cyclic AMP-dependent protein kinase. |
| https://doi.org/10.1111/j.1749-6632.1979.tb56619.x | NEUROPATHOLOGY OF “SPINNING SYNDROME” INDUCED BY PRENATAL INTOXICATION WITH A PCB IN MICE* |
| https://doi.org/10.1056/nejm198701083160211 | Is Nebulin the Defective Gene Product in Duchenne Muscular Dystrophy? |
| https://doi.org/10.1002/ana.410200210 | Adult‐onset autosomal dominant limb‐girdle muscular dystrophy |
| https://doi.org/10.1111/j.1749-6632.1998.tb10936.x | T Cell Recognition of the Acetylcholine Receptor in Myasthenia Gravisa |
| https://doi.org/10.1111/j.1749-6632.1988.tb27060.x | Strategies for the Treatment of Myasthenia Gravis |
| https://doi.org/10.4102/ajod.v3i2.75 | Development process in Africa: Poverty, politics and indigenous knowledge |
| https://doi.org/10.1038/35102259 | Recognizing risks and potential promise of germline engineering |
| https://doi.org/10.3233/jnd-221551 | The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations |
| https://doi.org/10.1136/jnnp.47.4.391 | Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy. |
| https://doi.org/10.1542/peds.2018-0333n | Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy |
| https://doi.org/10.1097/pep.0000000000000537 | Stepping Activity in Children With Congenital Myotonic Dystrophy |
| https://doi.org/10.1016/s0021-9258(17)34360-0 | 31P NMR study of bound reactants and products of yeast 3-phosphoglycerate kinase at equilibrium and the effect of sulfate ion. |
| https://doi.org/10.1016/s0021-9258(18)35973-8 | Affinity labeling of catalytic subunit of bovine heart muscle cyclic AMP-dependent protein kinase by 5'-p-fluorosulfonylbenzoyladenosine. |
| https://doi.org/10.1213/00000539-198304000-00007 | In Vitro Contracture Tests for Susceptibility to Malignant Hyperthermia |
| https://doi.org/10.1212/wnl.29.6.820 | Friedreich ataxia |
| https://doi.org/10.1002/ar.1092140103 | Mitochondrial morphometrics of histochemically identified human extraocular muscle fibers |
| https://doi.org/10.1300/j010v05n04_05 | LIVING WITH PROGRESSIVE CHILDHOOD ILLNESS |
| https://doi.org/10.1016/s0140-6736(84)91019-5 | THYMECTOMY IN POLYMYOSITIS |
| https://doi.org/10.1016/s0006-3495(92)81923-9 | A reconstruction of charge movement during the action potential in frog skeletal muscle |
| https://doi.org/10.1212/wnl.31.9.1198 | Polyclonal B‐cell activity in myasthenia gravis |
| https://doi.org/10.1542/pir.6-6-163 | Childhood Dermatomyositis and Polymyositis |
| https://doi.org/10.1111/j.1749-6632.1981.tb33746.x | COMPARATIVE IMMUNOGLOBULIN SYNTHESIS BY BLOOD LYMPHOCYTES OF MYASTHENICS AND NORMALS |
| https://doi.org/10.1097/00002281-200311000-00004 | New molecular research technologies in the study of muscle disease |
| https://doi.org/10.1111/j.1749-6632.1977.tb38218.x | THE EFFECTS OF EXERCISE‐TRAINING ON THE DEVELOPMENT OF FATIGUE* |
| https://doi.org/10.1016/j.nmd.2008.06.342 | T.P.5.01 Phase 2b Study of PTC124 in Duchenne/Becker muscular dystrophy (DMD/BMD): Demographic and other baseline data |
| https://doi.org/10.1111/j.1749-6632.1998.tb10941.x | CD4+ Epitope Spreading and Differential T Cell Recognition of Muscle Acetylcholine Receptor Subunits in Myasthenia Gravisa |
| https://doi.org/10.1111/j.1749-6632.1998.tb10940.x | Th1 Cells of Myasthenia Gravis Patients Recognize Multiple Epitopes on the Muscle Acetylcholine Receptor α Subunita |
| https://doi.org/10.1111/j.1749-6632.1998.tb10939.x | Acetylcholine Receptor‐specific CD4+ T Cells in Myasthenia Gravis Patients Have Individual, but Restricted TCR Vβ Usagea |
| https://doi.org/10.1177/088307388900400404 | Between the Lines: A Message of Hope |
| https://doi.org/10.1097/wnp.0000000000000415 | Charcot–Marie–Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot–Marie–Tooth Examination Score |
| Cost of illness for neuromuscular diseases in the U.S | |
| https://doi.org/10.2217/nmt.11.37 | Als in California: A Report From the First Annual California Als Research Summit |
| https://doi.org/10.1016/j.pmr.2012.12.002 | Ambulation in Adults with Central Neurologic Disorders |
| https://doi.org/10.1212/wnl.82.10_supplement.p7.008 | Muscular Dystrophy Association U.S. Neuromuscular Disease Registry - Preliminary Findings (P7.008) |
| https://doi.org/10.1016/j.nmd.2016.06.436 | Prevalence of genetic muscle disorders (MD-Prev): A national, population-based study |
| https://doi.org/10.1002/cyto.990020503 | Isolation of mouse X‐chromosome specific DNA from an X‐enriched lambda phage library derived from flow sorted chromosomes |
| https://doi.org/10.1016/j.nmd.2019.06.281 | EP.49The muscular dystrophy association neuromuscular observational research (MOVR) Data Hub |
| https://doi.org/10.1002/cyto.990050202 | Development and use of metaphase chromosome flow‐sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome |
| https://doi.org/10.1016/s0021-9258(19)70622-x | Calmodulin, S-100, and crayfish sarcoplasmic calcium-binding protein crystals suitable for X-ray diffraction studies. |
| https://doi.org/10.1101/2023.05.16.23289881 | Unexpected Death of a Duchenne Muscular Dystrophy Patient in an N-of-1 Trial of rAAV9-delivered CRISPR-transactivator |
| https://doi.org/10.1016/0022-510x(79)90224-7 | Abnormalities of T-cell subpopulations in the blood and thymus of patients with myasthenia gravis |
| https://doi.org/10.1111/j.1749-6632.1989.tb54511.x | High-dose TRH Treatment of Neuromuscular Diseases: Summary of Mechanisms and Critique of Clinical Studies. |