understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India
A Angural, A Spolia, A Mahajan, V Verma… - Frontiers in …, 2020 - frontiersin.org
Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …
general population compared to other diseases. Limited clinical information and a lack of …
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and …
Y Tao, C Zhao, D Han, Y Wei, L Wang, W Song… - Frontiers in …, 2023 - frontiersin.org
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic
neurodegenerative disorder with brain iron accumulation characterized as dysarthria …
neurodegenerative disorder with brain iron accumulation characterized as dysarthria …
Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)-A single centre study from India
Introduction Pantothenate kinase-associated neurodegeneration (PKAN) is the most
common “Neurodegeneration with Brain Iron Accumulation” disorder. This study aimed to …
common “Neurodegeneration with Brain Iron Accumulation” disorder. This study aimed to …
[HTML][HTML] The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: a case …
Interventions: Whole exome sequencing was performed to identify heterozygous mutations
in the PANK2 gene (NM_153638. 4)(c. 856C> T, p. Arg286Cys and c. 1351C> T, p …
in the PANK2 gene (NM_153638. 4)(c. 856C> T, p. Arg286Cys and c. 1351C> T, p …
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
NK Bhardwaj, VK Gowda, J Saini, AV Sardesai… - Brain and …, 2021 - Elsevier
Background Neurodegeneration with brain iron accumulation (NBIA) is a group of rare
inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting …
inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting …
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
D Yang, S Cho, SI Cho, M Kim, MW Seong… - Orphanet Journal of Rare …, 2022 - Springer
Background Neurodegeneration with brain iron accumulation describes a group of rare
heterogeneous progressive neurodegenerative disorders characterized by excessive iron …
heterogeneous progressive neurodegenerative disorders characterized by excessive iron …
Case report: A longitudinal study of an unusual rapidly progressive dementia case
X Liu, Z Fan, X Chen, Y Zhang, F He, X Ma… - Frontiers in …, 2023 - frontiersin.org
It is daunting to determine the etiology of rapidly progressive dementia (RPD), which
includes metabolic, neoplastic, infectious, autoimmune, neurodegenerative and other …
includes metabolic, neoplastic, infectious, autoimmune, neurodegenerative and other …
[PDF][PDF] A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration
S Efthymiou, Y Kriouile, V Salpietro… - Journal of the …, 2020 - discovery.ucl.ac.uk
Neurodegeneration with brain iron accumulation (NBIA) disorders are a heterogeneous set
of 30 inherited, rare and clinically diverse neurological diseases often characterised by …
of 30 inherited, rare and clinically diverse neurological diseases often characterised by …
PANK1 is a Prognostic Biomarker Associated with Immune Infiltration of Clear Cell Renal Carcinoma
B Ma, P Wang - Available at SSRN 3977791, 2021 - papers.ssrn.com
Background: PANK1 is expressed in some cancer types, but its role in clear cell renal
carcinoma (ccRCC) is unclear. We aimed to demonstrate the relationship between PANK1 …
carcinoma (ccRCC) is unclear. We aimed to demonstrate the relationship between PANK1 …