PDGF receptor mutations in human diseases
E Guérit, F Arts, G Dachy, B Boulouadnine… - Cellular and Molecular …, 2021 - Springer
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases
responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in …
responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in …
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features
G Donzuso, G Mostile, A Nicoletti, M Zappia - Neurological sciences, 2019 - Springer
Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …
[HTML][HTML] Mice knocked out for the primary brain calcification–associated gene Slc20a2 show unimpaired prenatal survival but retarded growth and nodules in the brain …
N Jensen, HD Schrøder, EK Hejbøl, JS Thomsen… - The American Journal of …, 2018 - Elsevier
Brain calcification of especially the basal ganglia characterizes primary familial brain
calcification (PFBC). PFBC is a rare neurodegenerative disorder with neuropsychiatric and …
calcification (PFBC). PFBC is a rare neurodegenerative disorder with neuropsychiatric and …
Unveiling Distinct Clinical Manifestations of Primary Familial Brain Calcifications in Asian and European Patients: A Study Based on 10-year Individual-Level Data
D Yang, H Huang, T Zeng, L Wang, C Ying… - Parkinsonism & Related …, 2025 - Elsevier
ABSTRACT Background Primary Familial Brain Calcification (PFBC) can manifest clinically
with a complex and heterogeneous array of symptoms, including parkinsonism, dysarthria …
with a complex and heterogeneous array of symptoms, including parkinsonism, dysarthria …
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus
A 60‐year‐old man is presented with progressive involuntary muscle movements and
neuropsychiatric symptoms who developed a variety of additional complaints over 2 years …
neuropsychiatric symptoms who developed a variety of additional complaints over 2 years …
Análise in vitro da co-expressão e efeito do microRNA-9 (miR-9-5p) em genes ligados à Calcificação Cerebral Primária Familiar
DP BEZERRA - 2017 - bdtd.ibict.br
Calcificação Cerebral Primária Familiar (CCPF) é uma doença neurológica caracterizada
por depósitos de fosfato de cálcio nos gânglios basais e outras regiões cerebrais sendo …
por depósitos de fosfato de cálcio nos gânglios basais e outras regiões cerebrais sendo …