Results 131 to 140 of about 1,722,355 (254)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Abnormal Connectivity of the Head Neural Integrator in Cervical Dystonia

International audienceAbstract Background Cervical dystonia is characterized by abnormal neck and head movements, possibly related to a dysfunction of the interstitial nucleus of Cajal (INC) and the head neural integrator, a system responsible for the ...
Hasboun, Dominique, Gallea, Cécile, Valabregue, Romain, Jegatheesan, Prasanthi, Zito, Giuseppe, Worbe, Yulia, Roze, Emmanuel, Pouget, Pierre, Ekmen, Asya, Zito, Giuseppe, A, Zito, Giuseppe A, Bonnet, Cécilia, Tarrano, Clément, Bouquet, Floriane, Vidailhet, Marie, Béranger, Benoît, Hubsch, Cécile, Delorme, Cécile, Degos, Bertrand, Sangla, Sophie, Méneret, Aurélie, Ouarab, Salim, Apoil Brissard, Marion   +22 more
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Graded Anderson procedure for correcting abnormal head posture in infantile nystagmus. [PDF]

Eye (Lond), 2019
Yahalom C, Hendler K, Galarza P, Dotan G.   +3 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Psikologi abnormal

, 2003
Judul asli : Abnormal psychology in a cahanging worldxv, 285 p.
greene, Beverly, Nevid, Jeffrey S.
core  

Multimodal Characterization of Glymphatic‐Related Magnetic Resonance Imaging Markers in Huntington's Disease: A Multi‐Cohort Retrospective Study

Annals of Neurology, EarlyView.
Objective To characterize magnetic resonance imaging (MRI)‐based glymphatic surrogates in Huntington's disease (HD) using MRI measures of perivascular diffusivity and structural perivascular alterations across multiple large cohorts. Methods We analyzed 2,731 MRI sessions from 880 participants across 3 large retrospective HD cohorts.
Alexia Solomon, Zexi Wang, Francesco Sanvito, Zheng Zhou, Adys Mendizabal, Jingwen Yao   +5 more
wiley   +1 more source

Brown syndrome: a literature review

Therapeutic Advances in Ophthalmology
The current data on various aspects of Brown syndrome are limited and sporadic. This review provides a coherent and comprehensive review of basic features, etiology, classification, differential diagnosis, and different management strategies of patients ...
Masoud Khorrami-Nejad, Elham Azizi, Farah Fareed Tarik, Mohamad Reza Akbari   +3 more
doaj   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source