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About 2,453 results

ALLMedicine™ Neuromuscular Diseases Center

Research & Reviews  1,201 results

The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release...
https://doi.org/10.1093/hmg/ddab043
Human Molecular Genetics; Su X, Dautant A et. al.

Feb 18th, 2021 - The human ATP synthase is an assembly of 29 subunits of 18 different types, of which only two (a and 8) are encoded in the mitochondrial genome. Subunit a, together with an oligomeric ring of c-subunit (c-ring), forms the proton pathway responsibl...

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
https://doi.org/10.1016/j.neubiorev.2021.02.009
Neuroscience and Biobehavioral Reviews; Tucker-Bartley A, Lemme J et. al.

Feb 13th, 2021 - For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain a...

Survey on patients' organisations' knowledge and position paper on screening for inheri...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874448
Orphanet Journal of Rare Diseases; Lamy F, Ferlini A et. al.

Feb 11th, 2021 - The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives and access to the different technique...

Protein signature of human skin fibroblasts allows the study of the molecular etiology ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874489
Orphanet Journal of Rare Diseases; Hentschel A, Czech A et. al.

Feb 10th, 2021 - The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of the respective diseas...

Increasead Cholinergic Tone Causes Pre-synaptic Neuromuscular Degeneration and is Assoc...
https://doi.org/10.1016/j.neuroscience.2020.12.025
Neuroscience Magalhães-Gomes MPS, Camargos W et. al.

Feb 6th, 2021 - In vertebrates, muscle activity is dependent on acetylcholine (ACh) released from neuromuscular junctions (NMJs), and changes in cholinergic neurotransmission are linked to a variety of neuromuscular diseases, including congenital myasthenic syndr...

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Guidelines  5 results

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific ...
https://doi.org/10.1161/CIR.0000000000000526
Circulation Feingold B, Mahle WT et. al.

Aug 25th, 2017 - For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limit...

MDA U.S. Neuromuscular Disease Registry
https://www.mda.org/services/neuromuscular-disease-registry
Muscular Dystrophy Association (USA)

Dec 31st, 2015 - In 2013, MDA launched the U. S.

An official American Thoracic Society statement: update on the mechanisms, assessment, ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448624
American Journal of Respiratory and Critical Care Medicine; Parshall MB, Schwartzstein RM et. al.

Feb 17th, 2012 - Dyspnea is a common, distressing symptom of cardiopulmonary and neuromuscular diseases. Since the ATS published a consensus statement on dyspnea in 1999, there has been enormous growth in knowledge about the neurophysiology of dyspnea and increasi...

CONSENSUS STATEMENT: THE USE OF INTRAVENOUS IMMUNOGLOBULIN IN THE TREATMENT OF NEUROMUSCULAR...
http://www.aanem.org/getmedia/e39a0191-ee38-48fe-9b43-e580228825a7/IVIG_CS_2009.pdf
PETER D. DONOFRIO

Sep 17th, 2009 - Consensus statements are important for developing treatment recommendations when evidence- based medicine (EBM) and treatment based on controlled trials is sparse or nonexistent. In this setting, it is clinically helpful to assemble a group of exp.

COVID-19: Guidelines for Myasthenia Gravis Management and Other Neuromuscular Disorders
https://journals.lww.com/neurotodayonline/blog/breakingnews/pages/post.aspx?PostID=950

​If your patients have myasthenia gravis, should they come in for an infusion therapy? Is it safe to start patients on a new B-cell depleting therapy? And should patients stop their immunosuppressive therapies? As the COVID-19 pandemic rages on, n...

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Clinicaltrials.gov  1,225 results

The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release...
https://doi.org/10.1093/hmg/ddab043
Human Molecular Genetics; Su X, Dautant A et. al.

Feb 18th, 2021 - The human ATP synthase is an assembly of 29 subunits of 18 different types, of which only two (a and 8) are encoded in the mitochondrial genome. Subunit a, together with an oligomeric ring of c-subunit (c-ring), forms the proton pathway responsibl...

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
https://doi.org/10.1016/j.neubiorev.2021.02.009
Neuroscience and Biobehavioral Reviews; Tucker-Bartley A, Lemme J et. al.

Feb 13th, 2021 - For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain a...

Survey on patients' organisations' knowledge and position paper on screening for inheri...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874448
Orphanet Journal of Rare Diseases; Lamy F, Ferlini A et. al.

Feb 11th, 2021 - The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives and access to the different technique...

Protein signature of human skin fibroblasts allows the study of the molecular etiology ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874489
Orphanet Journal of Rare Diseases; Hentschel A, Czech A et. al.

Feb 10th, 2021 - The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of the respective diseas...

Increasead Cholinergic Tone Causes Pre-synaptic Neuromuscular Degeneration and is Assoc...
https://doi.org/10.1016/j.neuroscience.2020.12.025
Neuroscience Magalhães-Gomes MPS, Camargos W et. al.

Feb 6th, 2021 - In vertebrates, muscle activity is dependent on acetylcholine (ACh) released from neuromuscular junctions (NMJs), and changes in cholinergic neurotransmission are linked to a variety of neuromuscular diseases, including congenital myasthenic syndr...

see more →

News  19 results

Vertex Pharmaceuticals expands into Duchenne gene therapy with new deals
https://www.reuters.com/article/us-exonics-therapeutics-m-a-vertex-pharm/vertex-pharmaceuticals-expands-into-duchenne-gene-therapy-with-new-deals-idUSKCN1T72YK

Jun 6th, 2019 - (Reuters) - Vertex Pharmaceuticals Inc said here on Thursday it would acquire privately held Exonics Therapeutics for an upfront payment of $245 million and potential milestone payments of up to $750 million. Exonics Therapeutics develops gene edi...

Conditional EU Approval of Muscular Dystrophy Drug Applauded
https://www.medscape.com/viewarticle/829486

Aug 5th, 2014 - The Muscular Dystrophy Association (MDA), a nonprofit health agency dedicated to finding treatments and cures for neuromuscular diseases, has applauded the decision by the European Union (EU) to conditionally approve ataluren (Translarna, PTC Ther...

Focusing on pediatrics: New initiatives from CHEST
https://www.mdedge.com/chestphysician/article/84476/pediatrics/focusing-pediatrics-new-initiatives-chest
Dr. Mary Cataletto, FCCP, FAAP

Jul 14th, 2014 - This year, the American College of Chest Physicians (CHEST) is proud to announce some new initiatives focusing on important issues in respiratory health and disease in infants, children, and adolescents. As treatment advances allow longer and bett.

Tirasemtiv: Initial Promise in Myasthenia Gravis
https://www.staging.medscape.com/viewarticle/781881

Apr 2nd, 2013 - San Diego, California — The investigational drug tirasemtiv (Cytokinetics), which is being studied for the first indication of amyotrophic lateral sclerosis (ALS), may also have a role in myasthenia gravis, preliminary data suggest. Presenting the...

Tirasemtiv: Initial Promise in Myasthenia Gravis
https://www.medscape.com/viewarticle/781881

Apr 2nd, 2013 - San Diego, California — The investigational drug tirasemtiv (Cytokinetics), which is being studied for the first indication of amyotrophic lateral sclerosis (ALS), may also have a role in myasthenia gravis, preliminary data suggest. Presenting the...

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Patient Education  3 results see all →