Results 141 to 150 of about 1,057,814 (256)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Johannesen KM, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +1 more source

Classroom boundaries and teacher agency: Challenges of implementing Ireland's new primary curriculum

The Curriculum Journal, EarlyView.
Abstract This article reports on a doctoral study examining teacher agency in one Irish primary school at a timely moment ahead of the implementation of the new Primary Curriculum Framework in September 2025. The framework embeds teacher agency as a central professional principle, yet findings from this study reveal a more cautious and bounded reality.
Máiréad Nally, Carmel O. Sullivan, Karin Bacon   +2 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Clinical and Genetic Spectrum of <i>ATP1A3</i>-Related Disorders: A Multicenter Cross-Sectional Study. [PDF]

Neurol Genet
Rebelo Procaci V, da Hora RPC, Gomes AM, Silva TYT, Embiruçu EK, Silva TO, Van Der Linden V, Estephan EP, Oliveira FN, de Goes FV, de Freitas MR, Horovitz DDG, Domingues JDP, Möller PDDS, Poswar FO, Krueger MB, van der Linden H, Torres BR, Loutfi KS, Kauark RBG, Inuzuka LM, Cabral KSS, Oliveira I, Rocha MSG, Camargos S, Maia DP, Maciel ROH, Cardoso F, da Penha Ananias Morita M, Coelho ÉN, França MC, Lima PLGSB, Pessoa ALS, Barsottini OGP, Nóbrega PR, Pedroso JL, as the ATP1A3 Study Group.   +36 more
europepmc   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report. [PDF]

Front Neurol
Lai ZSY, O'Neil N, Siebert E, Colley S, Panegyres PK.   +4 more
europepmc   +1 more source

Civil Society Advocacy and Climate Change in Kenya: The Question of “Local Voices” and Their “Amplification”

Environmental Policy and Governance, EarlyView.
ABSTRACT The role of civil society organizations (CSOs) in addressing climate change is acknowledged, but engagement with questions of voice remains limited, especially in the Global South. Addressing this, this paper zooms in on (International) nongovernmental organizations ((I)NGOs) and their collaborations with domestic CSOs in the Global South on ...
Margit van Wessel, Precious Akampurira
wiley   +1 more source

Walsh & Hoyt: Apparent Sex-Linked Optic Atrophy

, 2005
In 1975, Went et al. reported a three-generation family with eight individuals with optic atrophy, all male and all related via the maternal lineage. The onset of visual loss was inearly childhood, never acutely, with very slow progression.
Nancy J. Newman, MD
core  

Patient with two rare diseases-Renal coloboma syndrome and craniopharyngioma. [PDF]

Radiol Case Rep
Bancevica L, Apine I, Valeina S, Taurina G, Yaacoub WB, Franckevica I, Zaharova J, Malniece I, Baklasova A, Smite Laguna A, Kovalova Z.   +10 more
europepmc   +1 more source

Occipital irregular delta activity in focal epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...
Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens   +3 more
wiley   +1 more source