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Dynamic functional brain network connectivity during pseudoword processing relates to children’s reading skill
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| 2 |
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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| 3 |
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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| 4 |
Cortical microstructure in primary progressive aphasia: a multicenter study.
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In: Alzheimer's research & therapy, vol 14, iss 1 (2022)
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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In: Developmental neurorehabilitation, vol 25, iss 2 (2022)
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Computational Models in Electroencephalography.
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In: Brain topography, vol 35, iss 1 (2022)
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Hippocampal ensembles represent sequential relationships among an extended sequence of nonspatial events.
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In: Nature communications, vol 13, iss 1 (2022)
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| 9 |
Protocol for the development of the international population registry for aphasia after stroke (I-PRAISE)
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In: Research outputs 2014 to 2021 (2022)
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An aphasia research agenda – a consensus statement from the collaboration of aphasia trialists
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In: Research outputs 2014 to 2021 (2022)
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| 11 |
Quantitative MRI Biomarkers of Neurodegeneration in Multiple Sclerosis
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Platten, Michael. - : KTH, Medicinsk avbildning, 2022. : Karolinska Institutet, 2022. : Stockholm : KTH, 2022
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| 12 |
Implicit, Explicit, and Predictive Perceptual Processing in Dyslexia
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| 13 |
Raw birdsong data for "Vocal changes in a zebra finch model of Parkinson’s Disease characterized by alpha-synuclein overexpression in the song-dedicated anterior forebrain pathway" ...
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Raw birdsong data for "Vocal changes in a zebra finch model of Parkinson’s Disease characterized by alpha-synuclein overexpression in the song-dedicated anterior forebrain pathway" ...
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Applications of artificial intelligence to aid early detection of dementia: a scoping review on current capabilities and future directions
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| 17 |
Internal and external speech timing mechanisms in persistent developmental stuttering
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Characterizing microRNA-128 as a Therapeutic Target for Vocal Communication Deficits
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| 19 |
Language distance in orthographic transparency affects cross-language pattern similarity between native and non-native languages.
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In: Human brain mapping, vol 42, iss 4 (2021)
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Resting functional connectivity in the semantic appraisal network predicts accuracy of emotion identification.
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