[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing
Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …
The genetic landscape of Parkinson's disease
A Lunati, S Lesage, A Brice - Revue neurologique, 2018 - Elsevier
The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with
the first genetic mutation known to cause PD described in SNCA gene, many other genes …
the first genetic mutation known to cause PD described in SNCA gene, many other genes …
Genotype-phenotype correlations in monogenic Parkinson disease: a review on clinical and molecular findings
Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial
etiology. It is characterized by prominent movement disorders and non-motor symptoms …
etiology. It is characterized by prominent movement disorders and non-motor symptoms …
New genes causing hereditary Parkinson's disease or parkinsonism
A Puschmann - Current neurology and neuroscience reports, 2017 - Springer
Abstract Purpose of Review This article reviews genes where putative or confirmed
pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified …
pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified …
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
N Niemann, J Jankovic - Parkinsonism & related disorders, 2019 - Elsevier
Juvenile parkinsonism is arbitrarily defined as parkinsonian symptoms and signs presenting
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …
A practical approach to early-onset Parkinsonism
Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
G Al-Kasbi, F Al-Murshedi, A Al-Kindi, N Al-Hashimi… - Scientific Reports, 2022 - nature.com
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe
various disorders caused by abnormal brain development and characterized by impairments …
various disorders caused by abnormal brain development and characterized by impairments …
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
C Fevga, C Tesson, A Carreras Mascaro, T Courtin… - Brain, 2023 - academic.oup.com
The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is
involved in a number of signalling pathways and functions, including the regulation of crucial …
involved in a number of signalling pathways and functions, including the regulation of crucial …
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
Iterative re-analysis of NGS results is not well investigated for published research cohorts of
rare diseases. We revisited a cohort of 152 consanguineous families with developmental …
rare diseases. We revisited a cohort of 152 consanguineous families with developmental …
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence
H Morales-Briceño, SS Mohammad, B Post, AF Fois… - Brain, 2020 - academic.oup.com
Genetic early-onset parkinsonism presenting from infancy to adolescence (≤ 21 years old)
is a clinically diverse syndrome often combined with other hyperkinetic movement disorders …
is a clinically diverse syndrome often combined with other hyperkinetic movement disorders …