Dopamine transporter deficiency syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Dopamine transporter deficiency syndrome" in English language version.

refsWebsite

Global rank English rank

12nih.gov

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4doi.org

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2web.archive.org

1^st place

1charite.de

low place

1worldcat.org

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1semanticscholar.org

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1movementdisorders.org

low place

1pmdalliance.org

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1parkinson.org

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1pndassoc.org

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charite.de

compbio.charite.de

"Parkinsonism". Human Phenotype Ontology (HPO). Archived from the original on 2019-04-16. Retrieved 2019-05-06.

doi.org

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, et al. (April 2014). "Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood". Brain. 137 (Pt 4): 1107–19. doi:10.1093/brain/awu022. PMC 3959557. PMID 24613933.
Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, et al. (January 2011). "Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study". The Lancet. Neurology. 10 (1): 54–62. doi:10.1016/S1474-4422(10)70269-6. PMC 3002401. PMID 21112253.
Beerepoot P, Lam VM, Salahpour A (October 2016). "Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells". The Journal of Biological Chemistry. 291 (42): 22053–22062. doi:10.1074/jbc.M116.749119. PMC 5063988. PMID 27555326.
Ng, Joanne; Barral, Serena; De La Fuente Barrigon, Carmen; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther (2021-05-19). "Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism". Science Translational Medicine. 13 (594): eaaw1564. doi:10.1126/scitranslmed.aaw1564. ISSN 1946-6234. PMC 7612279. PMID 34011628. S2CID 234783656.

movementdisorders.org

"International Parkinson and Movement Disorder Society". www.movementdisorders.org. Retrieved 2019-05-05.

nih.gov

ncbi.nlm.nih.gov

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, et al. (April 2014). "Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood". Brain. 137 (Pt 4): 1107–19. doi:10.1093/brain/awu022. PMC 3959557. PMID 24613933.
Kurian MA (1993). "SLC6A3-Related Dopamine Transporter Deficiency Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Kurian MA (eds.). GeneReviews. University of Washington, Seattle. PMID 28749637.
Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, et al. (January 2011). "Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study". The Lancet. Neurology. 10 (1): 54–62. doi:10.1016/S1474-4422(10)70269-6. PMC 3002401. PMID 21112253.
Beerepoot P, Lam VM, Salahpour A (October 2016). "Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells". The Journal of Biological Chemistry. 291 (42): 22053–22062. doi:10.1074/jbc.M116.749119. PMC 5063988. PMID 27555326.
Ng, Joanne; Barral, Serena; De La Fuente Barrigon, Carmen; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther (2021-05-19). "Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism". Science Translational Medicine. 13 (594): eaaw1564. doi:10.1126/scitranslmed.aaw1564. ISSN 1946-6234. PMC 7612279. PMID 34011628. S2CID 234783656.

pubmed.ncbi.nlm.nih.gov

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, et al. (April 2014). "Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood". Brain. 137 (Pt 4): 1107–19. doi:10.1093/brain/awu022. PMC 3959557. PMID 24613933.
Kurian MA (1993). "SLC6A3-Related Dopamine Transporter Deficiency Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Kurian MA (eds.). GeneReviews. University of Washington, Seattle. PMID 28749637.
Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, et al. (January 2011). "Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study". The Lancet. Neurology. 10 (1): 54–62. doi:10.1016/S1474-4422(10)70269-6. PMC 3002401. PMID 21112253.
Beerepoot P, Lam VM, Salahpour A (October 2016). "Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells". The Journal of Biological Chemistry. 291 (42): 22053–22062. doi:10.1074/jbc.M116.749119. PMC 5063988. PMID 27555326.
Ng, Joanne; Barral, Serena; De La Fuente Barrigon, Carmen; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther (2021-05-19). "Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism". Science Translational Medicine. 13 (594): eaaw1564. doi:10.1126/scitranslmed.aaw1564. ISSN 1946-6234. PMC 7612279. PMID 34011628. S2CID 234783656.

ghr.nlm.nih.gov

"Dopamine transporter deficiency syndrome - Statistics". U.S. National Library of Medicine. April 30, 2019.

rarediseases.info.nih.gov

"Dopamine transporter deficiency syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2019-05-06. Retrieved 2019-05-05.

parkinson.org

"Parkinson's Foundation". Parkinson's Foundation. Retrieved 2019-05-05.

pmdalliance.org

"PMD Alliance". PMD Alliance. Retrieved 2019-05-05.

pndassoc.org

"PND Association | Home". www.pndassoc.org. Retrieved 2019-05-05.

semanticscholar.org

api.semanticscholar.org

Ng, Joanne; Barral, Serena; De La Fuente Barrigon, Carmen; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther (2021-05-19). "Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism". Science Translational Medicine. 13 (594): eaaw1564. doi:10.1126/scitranslmed.aaw1564. ISSN 1946-6234. PMC 7612279. PMID 34011628. S2CID 234783656.

web.archive.org

"Dopamine transporter deficiency syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2019-05-06. Retrieved 2019-05-05.
"Parkinsonism". Human Phenotype Ontology (HPO). Archived from the original on 2019-04-16. Retrieved 2019-05-06.

worldcat.org

search.worldcat.org

Ng, Joanne; Barral, Serena; De La Fuente Barrigon, Carmen; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther (2021-05-19). "Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism". Science Translational Medicine. 13 (594): eaaw1564. doi:10.1126/scitranslmed.aaw1564. ISSN 1946-6234. PMC 7612279. PMID 34011628. S2CID 234783656.