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Dynamic functional brain network connectivity during pseudoword processing relates to children’s reading skill
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| 5 |
A shared cabin in the woods: The presence and presents of writing in residential academic writing retreats
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| 6 |
The puzzling nuanced status of who free relative clauses in English: a follow-up to Patterson and Caponigro (2015)
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In: ENGLISH LANGUAGE & LINGUISTICS, vol 26, iss 1 (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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| 8 |
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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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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| 10 |
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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| 11 |
Satisfaction can co-exist with hesitation: qualitative analysis of acceptability of telemedicine among multi-lingual patients in a safety-net healthcare system during the COVID-19 pandemic.
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In: BMC health services research, vol 22, iss 1 (2022)
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| 12 |
Barriers and Facilitators to the Implementation of a Community Doula Program for Black and Pacific Islander Pregnant People in San Francisco: Findings from a Partnered Process Evaluation.
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In: Maternal and child health journal, vol 26, iss 4 (2022)
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| 13 |
Co-creating a Theory of Change to advance COVID-19 testing and vaccine uptake in underserved communities.
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| 14 |
Psychological Well-Being of Left-Behind Children in China: Text Mining of the Social Media Website Zhihu.
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In: International journal of environmental research and public health, vol 19, iss 4 (2022)
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| 15 |
Telemedicine implementation and use in community health centers during COVID-19: Clinic personnel and patient perspectives.
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| 16 |
The rigor-relevance gap in Project Management research: It's time to stop the lament and think and act reflexively
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In: https://hal.archives-ouvertes.fr/hal-03563085 ; 2022 (2022)
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SAWpaper: Self-assessment works paper research compendium ...
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SAWpaper: Self-assessment works paper research compendium ...
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