Results 21 to 30 of about 4,477 (107)

Self-Injurious Behaviour in SCA17: A New Clinical Observation [PDF]

, 2019
Background: Self-injurious behaviour has historically been associated with borderline personality disorder. Nevertheless, over recent years, it has been reported in numerous neurological syndromes, especially hyperkinesias.
Bhatia, Kailash P., Bonomo, Roberta, Latorre, Anna   +2 more
core   +5 more sources

New personalized genetic mouse model of Lesch-Nyhan syndrome for pharmacology and gene therapy [PDF]

, 2018
In the current study, we present the results of the generation of a genetically modified mouse strain carrying a deletion in the HPRT1 gene. These mice can be effectively used for the preclinical testing of new drugs aimed at the treatment of Lesch-Nyhan
Kalmykov, V. A., Korshunov, E. N., Korshunova, D. S., Kusov, P. A., Yablonskaia, M. I.   +4 more
core   +2 more sources

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the BRAF, MAP2K1, MAP2K2, or KRAS genes, commonly presents with ID and ...
Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue Collazo‐Lopez, Ryan Shanley, Elizabeth I. Pierpont   +5 more
wiley   +1 more source

Prospective Characterisation of Age‐Related Changes in Self‐Injurious Behaviour in a Sample of Children With Global Developmental Delay Aged 2–12 Years

Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 465-479, June 2025.
ABSTRACT Background Self‐injurious behaviour (SIB) is a common problem among individuals with intellectual and developmental disabilities (IDDs) with important impacts on quality of life. Although some evidence suggests that SIB may increase with age, perhaps in a curvilinear pattern, this is primarily based on cross‐sectional studies.
Breanne J. Byiers, Jaclyn Gunderson, Andrea Huebner, Frank J. Symons   +3 more
wiley   +1 more source

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients [PDF]

, 2015
International audienceBackground: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ...
Brassier, Anaïs, Cahu, Julie, Ceballos-Picot, Irène, Daignan-Fornier, Bertrand, Ea, Hang-Korng, Jais, Jean-Philippe, Le dantec, Aurélia, Ledroit, Morgan, Pinson, Benoit   +8 more
core   +2 more sources

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

Annals of Neurology, Volume 97, Issue 5, Page 809-825, May 2025.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source

Exploring the Possible Allosteric Binding Sites of Plasmodium falciparum Hypoxanthine‐Guanine‐Xanthine Phosphoribosyl Transferase (PfHGXPRT) with Iso‐Mukaadial Acetate and Ursolic Acid Acetate Using Computational Approaches

ChemistrySelect, Volume 10, Issue 10, March 11, 2025.
This study focuses on identifying potential allosteric pockets on PfHGXPRT that are structurally distinct from those on HsHGPRT. An in silico binding pocket workflow was employed integrating tools such as FTMap, FTSite, Protein Allosteric and Regulatory Sites (PARS), and the Protein Allosteric Sites Server (PaSSer). Identified pockets were evaluated by
Nicolaas Salomane, Ndumiso Nhlakanipho Mhlongo, Fortunate Mokoena, Thendo Mafuna, Mthokozisi Simelane   +4 more
wiley   +1 more source

High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability

Journal of Intellectual Disability Research, Volume 69, Issue 2, Page 137-152, February 2025.
Abstract Background Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals
B. K. Bulduk, J. Tortajada, L. Torres‐Egurrola, A. Valiente‐Pallejà, R. Martínez‐Leal, E. Vilella, H. Torrell, G. Muntané, L. Martorell   +8 more
wiley   +1 more source