Kufor–Rakeb syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kufor–Rakeb syndrome" in English language version.

refsWebsite

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9nih.gov

4^th place

5doi.org

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2omim.org

4,380^th place

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2rarediseases.org

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2medlineplus.gov

1,581^st place

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1semanticscholar.org

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1nbiadisorders.org

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1nbiacure.org

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1harvard.edu

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1worldcat.org

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1hopkinsmedicine.org

5,712^th place

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doi.org

Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Movement Disorders. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421. S2CID 43558413.
Spaull, RVV; Soo, AKS; Hogarth, P; Hayflick, SJ; Kurian, MA (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.accessed 21 April 2022
Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, et al. (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PLOS ONE. 7 (6): e39942. Bibcode:2012PLoSO...739942P. doi:10.1371/journal.pone.0039942. PMC 3386943. PMID 22768177.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, et al. (July 2016). "Genetic and phenotypic characterization of complex hereditary spastic paraplegia". Brain. 139 (Pt 7): 1904–18. doi:10.1093/brain/aww111. PMC 4939695. PMID 27217339.
Salomão, Rubens Paulo Araújo; Pedroso, José Luiz; Gama, Maria Thereza Drumond; Dutra, Lívia Almeida; Maciel, Ricardo Horta; Godeiro-Junior, Clécio; Chien, Hsin Fen; Teive, Hélio A. G.; Cardoso, Francisco; Barsottini, Orlando G. P. (July 2016). "A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging". Arquivos de Neuro-Psiquiatria. 74 (7): 587–596. doi:10.1590/0004-282X20160080. ISSN 1678-4227. PMID 27487380.

harvard.edu

ui.adsabs.harvard.edu

Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, et al. (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PLOS ONE. 7 (6): e39942. Bibcode:2012PLoSO...739942P. doi:10.1371/journal.pone.0039942. PMC 3386943. PMID 22768177.

hopkinsmedicine.org

"Physical Therapy for Parkinson's Disease". www.hopkinsmedicine.org. Retrieved 2021-05-02.

medlineplus.gov

"How do geneticists indicate the location of a gene?: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-05-03.
"Levodopa and Carbidopa: MedlinePlus Drug Information". medlineplus.gov. Retrieved 2021-05-02.

nbiacure.org

"Kufor-Rakeb | NBIA". Retrieved 2021-04-26.

nbiadisorders.org

"Kufor-Rakeb - NBIA Disorders Association". www.nbiadisorders.org. Retrieved 2021-04-26.

nih.gov

pubmed.ncbi.nlm.nih.gov

Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Movement Disorders. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421. S2CID 43558413.
Spaull, RVV; Soo, AKS; Hogarth, P; Hayflick, SJ; Kurian, MA (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.accessed 21 April 2022
Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, et al. (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PLOS ONE. 7 (6): e39942. Bibcode:2012PLoSO...739942P. doi:10.1371/journal.pone.0039942. PMC 3386943. PMID 22768177.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, et al. (July 2016). "Genetic and phenotypic characterization of complex hereditary spastic paraplegia". Brain. 139 (Pt 7): 1904–18. doi:10.1093/brain/aww111. PMC 4939695. PMID 27217339.
Salomão, Rubens Paulo Araújo; Pedroso, José Luiz; Gama, Maria Thereza Drumond; Dutra, Lívia Almeida; Maciel, Ricardo Horta; Godeiro-Junior, Clécio; Chien, Hsin Fen; Teive, Hélio A. G.; Cardoso, Francisco; Barsottini, Orlando G. P. (July 2016). "A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging". Arquivos de Neuro-Psiquiatria. 74 (7): 587–596. doi:10.1590/0004-282X20160080. ISSN 1678-4227. PMID 27487380.

ncbi.nlm.nih.gov

Spaull, RVV; Soo, AKS; Hogarth, P; Hayflick, SJ; Kurian, MA (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.accessed 21 April 2022
"Kufor-Rakeb syndrome - MeSH - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-05-03.
Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, et al. (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PLOS ONE. 7 (6): e39942. Bibcode:2012PLoSO...739942P. doi:10.1371/journal.pone.0039942. PMC 3386943. PMID 22768177.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, et al. (July 2016). "Genetic and phenotypic characterization of complex hereditary spastic paraplegia". Brain. 139 (Pt 7): 1904–18. doi:10.1093/brain/aww111. PMC 4939695. PMID 27217339.

omim.org

"OMIM Entry - # 606693 - KUFOR-RAKEB SYNDROME; KRS". www.omim.org. Retrieved 2021-04-26.
"OMIM Entry * 610513 - ATPase 13A2; ATP13A2". omim.org. Retrieved 2021-05-03.

rarediseases.org

"Kufor Rakeb Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-05-03.
"Kufor Rakeb Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-29.

semanticscholar.org

api.semanticscholar.org

Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Movement Disorders. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421. S2CID 43558413.

worldcat.org

search.worldcat.org

Salomão, Rubens Paulo Araújo; Pedroso, José Luiz; Gama, Maria Thereza Drumond; Dutra, Lívia Almeida; Maciel, Ricardo Horta; Godeiro-Junior, Clécio; Chien, Hsin Fen; Teive, Hélio A. G.; Cardoso, Francisco; Barsottini, Orlando G. P. (July 2016). "A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging". Arquivos de Neuro-Psiquiatria. 74 (7): 587–596. doi:10.1590/0004-282X20160080. ISSN 1678-4227. PMID 27487380.