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The genetic architecture of language functional connectivity
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In: ISSN: 1053-8119 ; EISSN: 1095-9572 ; NeuroImage ; https://hal.sorbonne-universite.fr/hal-03566120 ; NeuroImage, Elsevier, 2022, 249, pp.118795. ⟨10.1016/j.neuroimage.2021.118795⟩ (2022)
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The genetic architecture of the human language connectome ; L'architecture génétique du connectome du langage dans le cerveau humain
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In: https://tel.archives-ouvertes.fr/tel-03649334 ; Neuroscience. Université Paris-Saclay, 2022. English. ⟨NNT : 2022UPAST019⟩ (2022)
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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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Korb, Manisha; Peck, Allison; Alfano, Lindsay N; Berger, Kenneth I; James, Meredith K; Ghoshal, Nupur; Healzer, Elise; Henchcliffe, Claire; Khan, Shaida; Mammen, Pradeep PA; Patel, Sujata; Pfeffer, Gerald; Ralston, Stuart H; Roy, Bhaskar; Seeley, William W; Swenson, Andrea; Mozaffar, Tahseen; Weihl, Conrad; Kimonis, Virginia; VCP Standards of Care Working Group
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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Abstract:
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group's conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.
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Keyword:
2.1 Biological and endogenous factors; Amyotrophic Lateral Sclerosis; Brain Disorders; Cell Cycle Proteins; Clinical Research; Genetics & Heredity; Humans; Inclusion Body; Mutation; Myositis; Neurodegenerative; Neurological; Neurosciences; Osteitis Deformans; Other Medical and Health Sciences; Rare Diseases; Standard of Care; Valosin Containing Protein; VCP Standards of Care Working Group
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URL: https://escholarship.org/uc/item/8mb0b802
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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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An Interactive Teaching Tool Describing Resistance Evolution and Basic Economics of Insecticide-Based Pest Management.
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In: Insects, vol 13, iss 2 (2022)
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Analysis of ancestry heterozygosity suggests that hybrid incompatibilities in threespine stickleback are environment dependent.
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In: PLoS biology, vol 20, iss 1 (2022)
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First steps towards the detection of contact layers in Bangime: a multi-disciplinary, computer-assisted approach
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In: ISSN: 2732-5121 ; Open Research Europe ; https://hal.archives-ouvertes.fr/hal-03637688 ; Open Research Europe, F1000 Research Limited on behalf of the European Commission, 2022, 2, pp.10. ⟨10.12688/openreseurope.14339.1⟩ (2022)
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Genetic continuity of Indo-Iranian speakers since the Iron Age in southern Central Asia
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In: ISSN: 2045-2322 ; EISSN: 2045-2322 ; Scientific Reports ; https://hal.archives-ouvertes.fr/hal-03566556 ; Scientific Reports, Nature Publishing Group, 2022, 12, pp.733. ⟨10.1038/s41598-021-04144-4⟩ (2022)
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Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome ...
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Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome ...
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Additional file 1 of Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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Additional file 1 of Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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A new genus of land planarian (Platyhelminthes, Geoplanidae) for a new ‘blind’ species ...
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Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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A new genus of land planarian (Platyhelminthes, Geoplanidae) for a new ‘blind’ species ...
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Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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| 19 |
When one speaker’s broccoli is another speaker’s cauliflower : the real-time processing of multiple speaker vocabularies ...
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When one speaker’s broccoli is another speaker’s cauliflower : the real-time processing of multiple speaker vocabularies ...
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