Results 91 to 100 of about 7,545 (235)
Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]
, 2013 Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A +9 more
core
Behavioural phenotype of SYNGAP1‐related intellectual disability
Journal of Intellectual Disability Research, Volume 68, Issue 9, Page 1036-1049, September 2024.Abstract Background SYNGAP1‐ related intellectual disability (SYNGAP1‐ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur.
M. P. Kranak +2 more
wiley +1 more source
PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse [PDF]
, 2011 Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious ...
Edwards, Gaylen L. +6 more
core +4 more sources
β-Amyloid precursor protein (APP) and the human diseases
AIMS Neuroscience, 2019 Several pathophysiological functions of the human β-amyloid precursor protein (APP) have been recently proposed in different human diseases such as neurodevelopmental and neurodegenerative disorders including rare diseases such as autism, fragile X ...
Khue Vu Nguyen
doaj +1 more source
Journal of Genetic Counseling, Volume 33, Issue 4, Page 822-833, August 2024.Abstract Diagnostic genetic testing and non‐invasive prenatal testing (NIPT) for conditions associated with disability are becoming increasingly available to consumers. This genetic information can be used in the disability setting to inform factors such as prognosis, management, and reproductive decision‐making.
Tatiane Yanes +10 more
wiley +1 more source
Adenylyl cyclase 2 expression and function in neurological diseases
CNS Neuroscience &Therapeutics, Volume 30, Issue 7, July 2024.Mutations and expression changes of adenylyl cyclase 2 (Adcy2), a CNS‐enriched enzyme that converts ATP to cAMP, are associated with several neurodegenerative and psychiatric disorders. Abstract Adenylyl cyclases (Adcys) catalyze the formation of cAMP, a secondary messenger essential for cell survival and neurotransmission pathways in the CNS.
Marsilla Gray, Kevin R. Nash, Yao Yao
wiley +1 more source
Renal Failure, 2020 Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari +6 more
doaj +1 more source
A case of attempted bilateral self-enucleation in a patient with bipolar disorder
Mental Illness, 2017 Attempted and completed self-enucleation, or removal of one’s own eyes, is a rare but devastating form of self-mutilation behavior. It is often associated with psychiatric disorders, particularly schizophrenia, substance induced psychosis, and bipolar ...
Hannah Muniz Castro +4 more
doaj +1 more source
HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain [PDF]
, 2023 Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the
Abramov, AY +8 more
core
Epidemiology and types of urolithiasis
Pediatria i Medycyna Rodzinna, 2019 Urolithiasis is a lifestyle disease. Sex, age, race, place of residence (geographical region), chronic diseases, lifestyle (including diet) and various genetic factors contribute to the risk of calculus formation within the urinary tract.
Agnieszka Szmigielska +2 more
doaj +1 more source