Results 21 to 30 of about 2,914 (160)

Update on Genetic Chorea. [PDF]

Eur J Neurol
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +2 more sources

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]

Maedica (Bucur), 2023
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
europepmc   +2 more sources

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]

Frontiers in Genetics
Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng, Haoyang Zheng, Haoyang Zheng, Gui Chen, Gui Chen, Gui Chen, Tingting Wang, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Fang Liu, Fang Liu, Fang Liu, Yuanhong Xu, Yuanhong Xu, Yuanhong Xu   +24 more
doaj   +2 more sources

Lesch-Nyhan Syndrome [PDF]

, 2020
INSERM
  +5 more sources

Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]

PLoS ONE, 2014
Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Ghiabe-Henri Guibinga, Nikki Barron, William Pandori   +2 more
doaj   +2 more sources

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study [PDF]

Eur J Neurol
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Kilmer J, Ransley G, Murphy E, Hanna M, Pitceathly R, Rajakulendran S, Pizzamiglio C.   +6 more
europepmc   +2 more sources

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports. [PDF]

Int J Clin Pediatr Dent
Negi S, Tripathy S, Merchant Y, Mathur A, Mehta V.   +4 more
europepmc   +2 more sources

Clinical utility gene card for: Lesch-Nyhan syndrome. [PDF]

Eur J Hum Genet, 2011
Torres RJ, Puig JG, Ceballos-Picot I.
europepmc   +3 more sources

Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder [PDF]

AIMS Neuroscience
Epigenetics is the study of how cells control gene activity without changing the DNA sequence. Epigenetic changes affect how genes are turned on and off or expressed, and thus help regulate how cells in different parts of the body use the same genetic ...
Khue Vu Nguyen
doaj   +2 more sources