Results 161 to 170 of about 16,159 (251)

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, EarlyView.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

Developmental Medicine &Child Neurology, EarlyView.
Variability of motor imagery performance in children with cerebral palsy. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the two groups. Method In this cross‐sectional case–control study, 37 participants
Inbar Breuer Asher, Dafna Guttman, Pavel Goldstein, Tal Krasovsky   +3 more
wiley   +1 more source

Mental health difficulties in cerebral palsy: A qualitative study of young people's and parents' perspectives

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan, Jennifer Fortune, Jessica Burke, Aisling Walsh, Aoife Twohig, Ian McClelland, Amanda Breen, Meriel Norris, Jennifer M. Ryan, RELATE‐CP study team, Reuel Jalal, Mary Cannon, Kimberley J Smith, Michael Walsh, Ruth Kevlin, Claire Kerr   +15 more
wiley   +1 more source

Environmental supportiveness, physical activity, and sedentary time in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Greater environmental supportiveness in home, school, and community settings was associated with reduced sedentary time among children with cerebral palsy, while home environmental supportiveness was related to increased light‐intensity physical activity.
Stina Oftedal, Ellen Armstrong, Gaela Kilgour, Matthew Ahmadi, Stewart G. Trost, Sean A. Horan, Christopher Carty, Denise Brookes, Roslyn N. Boyd, Leanne Sakzewski, Sarah E. Reedman   +10 more
wiley   +1 more source

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Intervention outcomes of children with non‐degenerative dystonia and associated hyperkinetic movement disorders: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify the outcomes reported in published studies of intervention approaches used with non‐degenerative childhood hyperkinetic movement disorders, including dystonia, dyskinesia, hypertonia, athetosis, chorea, cerebral palsy, involuntary movement, and kernicterus, and map them to the International Classification of Functioning ...
Hortensia Gimeno, Hannah Scott, Rocio Muñoz Sanchez, Alice Doohan, Deepti Chugh, Adrienne Harvey, Kirsty Stewart, Peter Rosenbaum, Grace Stynes, Khamani Edwards, Katherine Knighting   +10 more
wiley   +1 more source