Results 171 to 180 of about 1,240,159 (279)

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Exploring perspectives of knowledge users about reporting on health equity in observational studies: a qualitative study informing the development of the STROBE-Equity reporting guideline. [PDF]

Int J Equity Health
Simpson D, Dewidar O, Ghogomu E, Aliyeva K, Bhutta Z, Barker LC, Cuervo LG, Ellingwood HN, Faber S, Feng C, Funnell S, Hardy BJ, Roberts JH, Horsley T, Krentel A, Little J, Kennedy M, Kredo T, Kristjansson E, Lawson DO, Mahande MJ, Marshall Z, Melendez-Torres GJ, Mbuagbaw L, Nguilefem MN, Obuku EA, Owusu-Addo E, Pantoja T, Pottie K, Rizvi A, Shamseer L, Tugwell P, Tufte J, Wang X, Wiysonge CS, Young T, Welch V, Jull J.   +37 more
europepmc   +1 more source

Reporting Guidelines

Korean Journal of Family Medicine, 2009
openaire   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Reporting guideline for the use of Generative Artificial intelligence tools in MEdical Research: the GAMER Statement. [PDF]

BMJ Evid Based Med
Luo X, Luo X, Tham YC, Giuffrè M, Ranisch R, Daher M, Lam K, Eriksen AV, Hsu CW, Ozaki A, Moraes FY, Khanna S, Su KP, Begagić E, Bian Z, Chen Y, Estill J, GAMER Working Group.   +17 more
europepmc   +1 more source

Improving social justice in observational studies: protocol for the development of a global and Indigenous STROBE-equity reporting guideline. [PDF]

Int J Equity Health, 2023
Funnell S, Jull J, Mbuagbaw L, Welch V, Dewidar O, Wang X, Lesperance M, Ghogomu E, Rizvi A, Akl EA, Avey MT, Antequera A, Bhutta ZA, Chamberlain C, Craig P, Cuervo LG, Dicko A, Ellingwood H, Feng C, Francis D, Greer-Smith R, Hardy BJ, Harwood M, Hatcher-Roberts J, Horsley T, Juando-Prats C, Kasonde M, Kennedy M, Kredo T, Krentel A, Kristjansson E, Langer L, Little J, Loder E, Magwood O, Mahande MJ, Melendez-Torres GJ, Moore A, Niba LL, Nicholls SG, Nkangu MN, Lawson DO, Obuku E, Okwen P, Pantoja T, Petkovic J, Petticrew M, Pottie K, Rader T, Ramke J, Riddle A, Shamseer L, Sharp M, Shea B, Tanuseputro P, Tugwell P, Tufte J, Von Elm E, Waddington HS, Wang H, Weeks L, Wells G, White H, Wiysonge CS, Wolfenden L, Young T.   +65 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Reporting guideline for Chatbot Health Advice studies: the CHART statement. [PDF]

BMC Med
Huo B, Collins G, Chartash D, Thirunavukarasu A, Flanagin A, Iorio A, Cacciamani G, Chen X, Liu N, Mathur P, Chan AW, Laine C, Pacella D, Berkwits M, Antoniou SA, Camaradou JC, Canfield C, Mittelman M, Feeney T, Loder E, Agha R, Saha A, Mayol J, Sunjaya A, Harvey H, Ng JY, McKechnie T, Lee Y, Verma N, Stiglic G, McCradden M, Ramji K, Boudreau V, Ortenzi M, Meerpohl J, Vandvik PO, Agoritsas T, Samuel D, Frankish H, Anderson M, Yao X, Loeb S, Lokker C, Liu X, Guallar E, Guyatt G, CHART Collaborative.   +46 more
europepmc   +1 more source

Protocol for the development of a reporting guideline for causal and counterfactual prediction models in biomedicine. [PDF]

BMJ Open, 2022
Xu J, Guo Y, Wang F, Xu H, Lucero R, Bian J, Prosperi M.   +6 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source