S Sivasubbu, V Scaria - Human genomics, 2019 - Springer
Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with …
Background The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a …
SF Berkovic, KL Oliver, L Canafoglia, P Krieger… - Brain, 2019 - academic.oup.com
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic …
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases which are considered among the most frequent causes of dementia in childhood worldwide …
M Juneja, U Shamim, A Joshi, A Mathur… - The Journal of Gene …, 2018 - Wiley Online Library
Abstract Background Mutations in SLC39A14 cause a recessive disorder of manganese (Mn) metabolism that manifests as childhood onset progressive neurodegeneration …
S Shakya, R Kumari, V Suroliya, N Tyagi… - Clinical …, 2019 - Wiley Online Library
Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge for diagnostic work‐up for ataxia patients in a clinically relevant time and …
Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very …
F Díaz-González, S Wadhwa… - Journal of Medical …, 2022 - jmg.bmj.com
Background C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine monophosphate …
JJ Chin, B Behnam, M Davids, P Sharma… - Molecular Genetics and …, 2019 - Elsevier
CLN6 is a transmembrane protein located in the endoplasmic reticulum that is involved in lysosomal acidification. Mutations in CLN6 cause late-infantile neuronal ceroid …