*  Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders - Full Text...
Pick Disease of the Brain. Neuromuscular Diseases. Muscular Atrophy. Distal Myopathies. Pathologic Processes. Brain Diseases. ... Metabolic Diseases. Muscular Disorders, Atrophic. Musculoskeletal Diseases. Genetic Diseases, Inborn. Frontotemporal Lobar ... Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders. The safety ... MedlinePlus related topics: Muscle Disorders Neuromuscular Disorders Genetic and Rare Diseases Information Center resources: ...
  https://clinicaltrials.gov/ct2/show/NCT01459302?cond=%22Speech+Disorders%22&rank=15
*  Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders - Full Text...
Pick Disease of the Brain. Neuromuscular Diseases. Muscular Atrophy. Distal Myopathies. Pathologic Processes. Brain Diseases. ... Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders. The safety ... MedlinePlus related topics: Muscle Disorders Neuromuscular Disorders Genetic and Rare Diseases Information Center resources: ... Condition or disease Amyotrophic Lateral Sclerosis Frontotemporal Dementia PLS Motor Neuron Disease Lou Gehrigs Disease ...
  https://clinicaltrials.gov/ct2/show/NCT01459302?recr=Open&cond=%22Genetic+Diseases%2C+Inborn%22&rank=13
*  Thomas Eugene Lloyd II, M.D., Ph.D.
Thomas Lloyd specializes in neuromuscular disorders in adults, with a particular interest in neurogenetic... ... Neuromuscular Disease, Peripheral Nerve Disorders ...read more. Research Interests: Genetic models of neuromuscular diseases ... Lloyd is developing genetic and pharmacologic screens to identify novel drug targets for motor neuron diseases. Visit the Lloyd ... Expertise: Amyotrophic Lateral Sclerosis (ALS), Charcot Marie Tooth Disease (CMT), Inclusion Body Myositis, Lou Gehrig's ...
  https://www.hopkinsmedicine.org/profiles/results/directory/profile/0018679/thomas-lloyd?setsize=10&CLEARPAGECACHE=false&spec_disease=Lung%20Abscess,Lung%20Abscess&dbase=main,main&directRef=%2Fdoctors%2Fresults%2Fdirectory%2Fprofile%2F0018679%2Fthomas-lloyd
*  Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) - Full...
neuromuscular diseases. hypotonia. genetic mutation. Additional relevant MeSH terms: Muscular Diseases. Myopathies, Structural ... Genetic and Rare Diseases Information Center resources: Centronuclear Myopathy X-linked Myotubular Myopathy ... Change in disease severity and disease progression [ Time Frame: Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24 ] ... Other disease which may significantly interfere with the assessment of MTM and is clearly not related to the disease. ...
  https://clinicaltrials.gov/ct2/show/NCT02057705?term=Congenital+Myopathy&rank=13
*  Floppy Infant | SpringerLink
Krajewski, K. M., & Shy, M. E. (2004). Genetic testing in neuromuscular disease. Neurologic Clinics, 22, 481-508.PubMedCrossRef ... 2000). Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatric Neurology, 23, 289-300.PubMed ... Igarash, M. (2004). Floppy infant syndrome (Review). Journal of Clinical & Neuromuscular Disorders, 6, 69-90.CrossRefGoogle ... 2006). Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome. Genetics in Medicine, 8, 289 ...
  https://link.springer.com/referenceworkentry/10.1007/978-1-4614-1037-9_95
*  Staff Profile - Institute of Genetic Medicine - Newcastle University
Neuromuscular research. The majority of neuromuscular diseases are rare genetic conditions. They either affect the anterior ... In: 8th UK Neuromuscular Translational Research Conference. 2015, Newcastle upon Tyne (UK): Centre for Neuromuscular Diseases. ... In: 8th UK Neuromuscular Translational Research Conference. 2015, Newcastle upon Tyne: Centre for Neuromuscular Diseases. ... In: 9th UK Annual Neuromuscular Research Conference. 2016, Oxford (UK): Centre for Neuromuscular Diseases. ...
  http://www.ncl.ac.uk/igm/staff/profile/volkerstraub.html
*  Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention | SpringerLink
... is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair ... Emery AEH (1981) Genetic aspects of neuromuscular disease. In: Walton J (ed) Disorders of voluntary muscle, 4th ed. Churchill ... which is higher than for any other X-linked genetic disease. Moreover, unlike other X linked diseases such as hemophilia A or ... A biopsy study of 16 dystrophy and 205 other neuromuscular disease cases and controls. J Neurol 219:63-72Google Scholar ...
  https://link.springer.com/article/10.1007%2FBF00275183
*  Roche - Roche acquires Trophos to expand portfolio in neuromuscular disease with high medical need
... a rare and debilitating genetic neuromuscular disease that is most commonly diagnosed in children. Results from a pivotal phase ... SMA is an autosomal recessive genetic disease caused by a loss of function of the Survival Motor Neuron (SMN) 1 gene, which ... Roche acquires Trophos to expand portfolio in neuromuscular disease with high medical need. *Results from pivotal Phase II ... SMA is a life-limiting and highly disabling genetic disease characterised by progressive muscle weakness and loss of motor ...
  https://www.roche.com/media/store/releases/med-cor-2015-01-16.htm
*  Congenital Muscle Disease Study of Patient and Family Reported Medical Information - Full Text View - ClinicalTrials.gov
Musculoskeletal Diseases. Neuromuscular Diseases. Nervous System Diseases. Genetic Diseases, Inborn. Body Temperature Changes. ... Identifying care parameters and adverse events in the rare genetic neuromuscular diseases can be difficult. Care is fragmented ... Central Core Disease Walker-Warburg Syndrome Muscle Eye Brain Disease Myosin Storage Myopathy Multicore Disease Minicore ... Genetic and Rare Diseases Information Center resources: Muscular Dystrophy Centronuclear Myopathy Nemaline Myopathy Limb-girdle ...
  https://clinicaltrials.gov/ct2/show/NCT01403402?cond=%22centronuclear+myopathy%22+OR+%22Myotubular+Myopathy%22&rank=3
*  Congenital Muscle Disease Study of Patient and Family Reported Medical Information - Full Text View - ClinicalTrials.gov
Identifying care parameters and adverse events in the rare genetic neuromuscular diseases can be difficult. Care is fragmented ... Genetic Diseases, Inborn. Syndrome. Muscular Dystrophies. Muscular Diseases. Fever. Brain Diseases. Lambert-Eaton Myasthenic ... Neuromuscular Diseases. Nervous System Diseases. Body Temperature Changes. Signs and Symptoms. Central Nervous System Diseases ... Central Core Disease Walker-Warburg Syndrome Muscle Eye Brain Disease Myosin Storage Myopathy Multicore Disease Minicore ...
  https://clinicaltrials.gov/ct2/show/NCT01403402?recr=Open&cond=%22Genetic+Diseases%2C+Inborn%22&rank=4
*  Search of: Neuromuscular | Recruiting, Not yet recruiting, Available Studies | 'Nervous System Diseases' - List Results -...
Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases. *Neurological Disorders. *Neuromuscular Disorders ... Pulmonary Function and Neuromuscular Disease. *Neuromuscular Diseases. Observational. *Centre Hospitalier Universitaire de ... Neuropsychological and Psychosocial Follow up of Children and Adolescents With Neuromuscular Disease. *Neuromuscular Diseases ... Long-Term Effect of LIAM on Respiratory Performance in NIV Patients Suffering From Neuromuscular Disease. *Neuromuscular ...
  https://clinicaltrials.gov/ct2/results?term=Neuromuscular&recrs=abc&cond=%22Nervous+System+Diseases%22
*  Biogen Idec and Isis Pharmaceuticals Announce Global Collaboration for Antisense Program Targeting Myotonic Dystrophy - Drugs...
Option to Develop and Commercialize Promising Compound for Most Common Form of Muscular Dystrophy Isis Expands its Rare Disease ... DM1 is a genetic neuromuscular disease characterized by disabling muscle spasms and progressive muscle wasting and weakness. ... DM1, the most common form of muscular dystrophy in adults, is a genetic neuromuscular disease characterized by progressive ... The genetic defect in the DMPK gene creates a toxic RNA rather than a disease-causing protein. The toxic RNA accumulates within ...
  https://www.drugs.com/news/biogen-idec-isis-pharmaceuticals-announce-global-collaboration-antisense-program-targeting-myotonic-39023.html
*  Vol.42 No.2 contents | Rinsho Shinkeigaku (Clinical Neurology) | JAPANESE SOCIETY OF NEUROLOGY
Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases. Kunihiro Yoshida, M ... A patient with Parkinson's disease complicated by hypothyroidism who developed malignant syndrome after discontinuation of ...
  http://neurology-jp.org/Journal/cgi-bin/journal.cgi?lg=en&pg=cont&vl=42&no=2
*  National Organization of Disorders of the Corpus Callosum National Organization of Disorders of the Corpus Callosum » National...
His clinical interests include neuromuscular diseases and genetic syndromes affecting children.. Lecture Abstract: Agenesis/ ... Lecture Abstract: Agenesis/partial/hypoplasia of the corpus callosum has been described in over 200 genetic disorders and is ... Lecture Abstract: Agenesis/hypoplasia of the corpus callosum has been described in over 200 genetic disorders and is associated ... partial/hypoplasia of the corpus callosum has been described in over 200 genetic disorders and is associated with other ...
  https://nodcc.org/resources/dcc-conference-podcasts/
*  Molecular and Genetic Studies of Congenital Myopathies - Full Text View - ClinicalTrials.gov
MedlinePlus related topics: Muscle Disorders Neuromuscular Disorders Genetic and Rare Diseases Information Center resources: ... Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our ... Identification of Neuromuscular Disease Genes [ Time Frame: The time frame for disease gene discovery is unpredictable and may ... Condition or disease Central Core Disease Centronuclear Myopathy Congenital Fiber Type Disproportion Multiminicore Disease ...
  https://clinicaltrials.gov/ct2/show/NCT00272883?cond=%22intranuclear+rod+myopathy%22+OR+%22Myopathies%2C+Structural%2C+Congenital%22&rank=5
*  Molecular Analysis of Patients With Neuromuscular Disease - Full Text View - ClinicalTrials.gov
Muscular Diseases. Musculoskeletal Diseases. Nervous System Diseases. Genetic Diseases, Inborn. Genetic Diseases, X-Linked. ... MedlinePlus related topics: Neuromuscular Disorders Genetic and Rare Diseases Information Center resources: Muscular Dystrophy ... We aim to identify and characterize the genetic changes responsible for the neuromuscular diseases found in our participants ... Molecular Analysis of Patients With Neuromuscular Disease. The safety and scientific validity of this study is the ...
  https://clinicaltrials.gov/ct2/show/NCT00390104?recr=Open&cond=%22Neuromuscular+Diseases%22&rank=11
*  Sarepta Therapeutics Announces Publication of Long-Term Pulmonary Function of Eteplirsen-Treated Patients Compared to Natural...
... company focused on the discovery and development of precision genetic medicines to treat rare neuromuscular diseases, today ... company focused on the discovery and development of precision genetic medicines to treat rare neuromuscular diseases. The ... 2017 online edition of The Journal of Neuromuscular Diseases. A statistically significant and clinically meaningful reduction ... Our mission is to develop and bring to the community precision genetic therapies that can improve the lives of those suffering ...
  https://globenewswire.com/news-release/2017/12/27/1274901/0/en/Sarepta-Therapeutics-Announces-Publication-of-Long-Term-Pulmonary-Function-of-Eteplirsen-Treated-Patients-Compared-to-Natural-History-of-Duchenne-Muscular-Dystrophy-in-The-Journal-.html
*  Madigan's Annual Tree Lighting Honors Pediatric Patients - ThurstonTalk
... "is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The disease generally manifests early in life ... and is the leading genetic cause of death in infants and toddlers." There are various levels of severity, with symptoms ...
  http://www.thurstontalk.com/2013/12/10/madigans-annual-tree-lighting-honors-pediatric-patients/
*  Patients Treated with Sarepta's Eteplirsen Experienced a Reduction in Pulmonary Decline in Duchenne Muscular Dystrophy Study -...
... company focused on the discovery and development of precision genetic medicines to treat rare neuromuscular diseases, today ... Infectious Diseases Mental Health Neurology Obstetrics Orthopedics Public Health Respiratory Rheumatology Urology Track topics ... Infectious Diseases Mental Health Neurology Obstetrics Orthopedics Public Health Respiratory Rheumatology Urology. Track topics ...
  https://www.bioportfolio.com/news/article/3465794/Patients-Treated-with-Sareptas-Eteplirsen-Experienced-a-Reduction-in-Pulmonary-Decline-in.html
*  National Institute of General Medical Sciences | Quest Magazine Online
People with genetic neuromuscular diseases who want to "do something for science" now have a way to do so, although they're ... People with certain genetic neuromuscular diseases are encouraged to donate blood samples for research; privacy and anonymity ...
  http://quest.mda.org/category/qmo-content-tags/national-institute-general-medical-sciences
*  JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, which is the leading genetic cause of mortality ... However, the properties of DPSCs from individuals with an inherited genetic disorder, such as Huntingtons disease (HD), have ... The genetic basis for SMA has been well documented as a mutation in the gene for survival of motor neuron (SMN). Because there ... Monkey hybrid stem cells develop cellular features of Huntingtons disease.. Chuti Laowtammathron, Eric Ch Cheng, Pei-Hsun Cheng ...
  https://www.jove.com/visualize?author=Brooke%20R%20Snyder%20
*  Charcot-Marie-Tooth Disease: Extensive Cranial Nerve Involvement on CT and MR Imaging | American Journal of Neuroradiology
... would like to thank the members of the Barrow Neurological Institute Neuromuscular Disease Center for performing the genetic ... As with CMT, cranial nerve involvement in the other types of HMSN (such as Déjérine-Sottas disease [type III] or Refsum disease ... neoplastic disease (metastatic disease and lymphoma), amyloid neuropathy, and neurosyphilis. The degree of cranial nerve ... Charcot-Marie-Tooth Disease: Extensive Cranial Nerve Involvement on CT and MR Imaging. Todd R. Aho, Robert C. Wallace, Alan M. ...
  http://www.ajnr.org/content/25/3/494.full
*  Tailor Bunions CausesFeet Troubles Explained
Genetic and neuromuscular disease (eg. Down's,Ehler-Danlos and Marfan's syndromes) resulting in muscle imbalance. Limb length ... Genetic and neuromuscular disease (eg. Down's,Ehler-Danlos and Marfan's syndromes) resulting in muscle imbalance. Limb length ...
  http://forbeshihbcnhhiq.snack.ws
*  Neuromuscular junction - Wikipedia
Neuromuscular junction diseases can be of genetic and autoimmune origin. Genetic disorders, such as Duchenne muscular dystrophy ... However, Kennedy's disease is only present in adult males and the onset of the disease is typically later in life. This disease ... Autoimmune disorders, in the case of neuromuscular diseases, tend to be humoral mediated, B cell mediated, and result in an ... Finsterer J, Papić L, Auer-Grumbach M (October 2011). "Motor neuron, nerve, and neuromuscular junction disease". Curr. Opin. ...
  https://en.wikipedia.org/wiki/Neuromuscular_junction
*  Neuromuscular disease - Wikipedia
In neuromuscular disease evaluation, it is important to perform musculoskeletal and neurologic examinations. Genetic testing is ... Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the functioning of the ... List of neuromuscular disorders Muscle Motor neuron diseases ICD-10 Chapter XIII: Diseases of the musculoskeletal system and ... Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen ...
  https://en.wikipedia.org/wiki/Neuromuscular_disease