*  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
*  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. Pathologic Processes. Brain Diseases. Central Nervous ... Spinal Cord Diseases. TDP-43 Proteinopathies. Proteostasis Deficiencies. Metabolic Diseases. Musculoskeletal Diseases. Genetic ... 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?recrs=abc&cond=%22Muscular+Diseases%22&rank=30
*  Cell & Gene Therapy : Pharmaceuticals : UK
Rare, genetic neuromuscular diseases constitute a bigger challenge given the absence of knowledge on the physiopatological ... 11:40 Overcoming adeno-associated virus gene therapy limitations in genetic neuromuscular diseases. ... Rare & ultra-rare diseases. • Genetic Diseases. • Ophthalmology. • Cancer / Oncology. • Market Access. • Pricing & ... Development of technological tools to overcome the current limitations of AAV gene therapy applied to neuromuscular diseases.. ...
  http://smi-online.co.uk/pharmaceuticals/uk/conference/cell-gene-therapy?o=login&dl=br&p1=5417
*  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
*  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
*  Journal of Neuromuscular Diseases - Volume 4, issue 2 - Journals - IOS Press
... diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal ... The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, ... Citation: Journal of Neuromuscular Diseases, vol. 4, no. 2, pp. 99-113, 2017 ... Citation: Journal of Neuromuscular Diseases, vol. 4, no. 2, pp. 115-126, 2017 ...
  https://content.iospress.com/journals/journal-of-neuromuscular-diseases/4/2
*  Journal of Neuromuscular Diseases - Volume 4, issue 1 - Journals - IOS Press
... diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal ... The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, ... Citation: Journal of Neuromuscular Diseases, vol. 4, no. 1, pp. 1-15, 2017 ... Citation: Journal of Neuromuscular Diseases, vol. 4, no. 1, pp. 17-23, 2017 ...
  https://content.iospress.com/journals/journal-of-neuromuscular-diseases/4/1
*  Journal of Neuromuscular Diseases - Volume 4, issue 4 - Journals - IOS Press
Abstract: Background: Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic ... diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal ... Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review Authors: Landfeldt, Erik , Edström ... The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, ...
  https://content.iospress.com/journals/journal-of-neuromuscular-diseases/4/4
*  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
*  Neuromuscular disease
We are also actively involved in research into the genetic and acquired neuromuscular diseases, are involved in clinical trials ... Neuromuscular disease The Centre for Neuromuscular Diseases draws together the expertise of a large team of specialist clinical ... Neuromuscular disease, Neurogenetics Laboratory, Neurology and neurosurgery. Dr Aisling Carr. Neuromuscular disease, Neurology ... We have recently been awarded a grant to set up the MRC Centre for Neuromuscular Diseases at UCL and the National Hospital, in ...
  http://www.uclh.nhs.uk/OurServices/ServiceA-Z/Neuro/CND/Pages/Home.aspx
*  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
*  Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
... valvular heart disease, vascular disease, congenital heart disease and cardiomyopathy. ... it is caused by other genetic disorders including inherited metabolic and neuromuscular diseases, chromosome abnormalities, and ... D. P. Germain, "Fabry disease," Orphanet Journal of Rare Diseases, vol. 5, no. 1, p. 30, 2010. View at Publisher · View at ... Anderson-Fabry disease (AFD) is an X-linked disease of lysosomal metabolism resulting in attenuated activity or absence of the ...
  https://www.hindawi.com/journals/cric/2018/6131083/
*  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
*  Neurology - Wikipedia
Advances in genetic testing has made genetic testing an important tool in the classification of inherited neuromuscular disease ... Parkinson's disease, Tourette's syndrome, multiple sclerosis, head trauma, sleep disorders, neuromuscular diseases, and various ... The role of genetic influences on the development of acquired neurologic diseases is an active area of research. Some of the ... Physical medicine and rehabilitation physicians also in the US diagnosis and treat patients with neuromuscular diseases through ...
  https://en.wikipedia.org/wiki/Neurology
*  Mayana Zatz - Wikipedia
In 1969, Dr Zatz started her work in genetic counseling in families which were carriers of neuromuscular diseases, in order to ... Since the beginning of her career Mayana has assisted approximately 16,000 people of families affected by genetic diseases ( ... mostly neuromuscular problems), which is the highest number of cases registered in the world. In the latter part of 1995, ...
  https://en.wikipedia.org/wiki/Mayana_Zatz