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Year Number of Results
2013 1
2014 2
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2017 7
2018 11
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2020 13
2021 15
2022 9
2023 12
2024 3

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72 results

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Page 1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
Jia F, Fellner A, Kumar KR. Jia F, et al. Genes (Basel). 2022 Mar 7;13(3):471. doi: 10.3390/genes13030471. Genes (Basel). 2022. PMID: 35328025 Free PMC article. Review.
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X-linked dystonia parkinsonism. Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2 …
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X- …
X-Linked Dystonia-Parkinsonism: recent advances.
Bragg DC, Sharma N, Ozelius LJ. Bragg DC, et al. Curr Opin Neurol. 2019 Aug;32(4):604-609. doi: 10.1097/WCO.0000000000000708. Curr Opin Neurol. 2019. PMID: 31116117 Free PMC article. Review.
PURPOSE OF REVIEW: Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain …
PURPOSE OF REVIEW: Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent …
X-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy.
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH. Evidente VGH, et al. Mov Disord. 2022 Jan;37(1):130-136. doi: 10.1002/mds.28801. Epub 2021 Sep 28. Mov Disord. 2022. PMID: 34582053
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can present with levodopa-responsive parkinsonism and abnormal dopamine transporter (DAT) imaging. ...
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among …
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP. Di Lazzaro G, et al. Mov Disord. 2021 Jul;36(7):1511-1525. doi: 10.1002/mds.28565. Epub 2021 May 7. Mov Disord. 2021. PMID: 33960519 Review.
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, namely X-linked dystonia-parkinsonism (XDP, Lubag disease), fragile X-associated tremor/ataxia syndrome ( …
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, …
Mechanisms underlying phenotypic variation in neurogenetic disorders.
Burgunder JM. Burgunder JM. Nat Rev Neurol. 2023 Jun;19(6):363-370. doi: 10.1038/s41582-023-00811-4. Epub 2023 May 18. Nat Rev Neurol. 2023. PMID: 37202496 Review.
An important role for modifier genes has also been identified in some neurogenetic disorders, including HD, spinocerebellar ataxia and X-linked dystonia-parkinsonism. In other disorders, such as spastic paraplegia, the basis for most of the phenotypic …
An important role for modifier genes has also been identified in some neurogenetic disorders, including HD, spinocerebellar ataxia and X …
X-linked dystonia Parkinsonism: crossing a new threshold.
Ng AR, Jamora RDG, Rosales RL. Ng AR, et al. J Neural Transm (Vienna). 2021 Apr;128(4):567-573. doi: 10.1007/s00702-021-02324-0. Epub 2021 Mar 15. J Neural Transm (Vienna). 2021. PMID: 33721107 Review.
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. ...
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on s …
X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment.
Chin HL, Lin CY, Chou OH. Chin HL, et al. Acta Neurol Belg. 2023 Feb;123(1):45-55. doi: 10.1007/s13760-022-02144-3. Epub 2022 Nov 23. Acta Neurol Belg. 2023. PMID: 36418540 Review.
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affects Filipino descent, predominantly males. Its underlying cause is associated with the genetic alterations in the TAF1/DYT3 multiple t …
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affec …
Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism.
Arasaratnam CJ, Singh-Bains MK, Waldvogel HJ, Faull RLM. Arasaratnam CJ, et al. Neurobiol Dis. 2021 Jan;148:105186. doi: 10.1016/j.nbd.2020.105186. Epub 2020 Nov 20. Neurobiol Dis. 2021. PMID: 33227492 Free article. Review.
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. ...
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to …
A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism.
Alonto AHD, Jamora RDG. Alonto AHD, et al. Parkinsonism Relat Disord. 2024 Feb;119:105949. doi: 10.1016/j.parkreldis.2023.105949. Epub 2023 Nov 30. Parkinsonism Relat Disord. 2024. PMID: 38072720 Review.
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been studied well in recent years. ...
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been stu …
Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing.
Tshilenge KT, Bons J, Aguirre CG, Geronimo-Olvera C, Shah S, Rose J, Gerencser AA, Mak SK, Ehrlich ME, Bragg DC, Schilling B, Ellerby LM. Tshilenge KT, et al. Neurobiol Dis. 2024 Jan;190:106367. doi: 10.1016/j.nbd.2023.106367. Epub 2023 Nov 30. Neurobiol Dis. 2024. PMID: 38042508 Free article.
X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. ...
X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. ...
72 results