Hiperecplexia (Portuguese Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hiperecplexia" in Portuguese language version.

refsWebsite

Global rank Portuguese rank

19doi.org

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18nih.gov

4^th place

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2ru.nl

9,179^th place

low place

1infoescola.com

4,144^th place

89^th place

1zenodo.org

621^st place

1,847^th place

1ucl.ac.uk

1,306^th place

1,471^st place

doi.org

dx.doi.org

van den Maagdenberg AM, Tijssen MA, Bakker MJ, van Dijk JG. «Startle Syndromes». Lancet Neurology. 5: 513–524. PMID 16713923. doi:10.1016/S1474-4422(06)70470-7
van de Warrenburg. «Persisting Hyperekplexia After Idiopathic, Self-Limiting Brainstem Encephalopathy». Movement Disorders. 22: 1017–20. PMID 17415799. doi:10.1002/mds.21411
Koning-Tijssen. «Hyperekplexia in the Neonate». Movement Disorders. 15: 1293–6. PMID 11104232. doi:10.1002/1531-8257(200011)15:6<1293::aid-mds1047>3.0.co;2-k
Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012
Lynch. «Native glycine receptor subtypes and their physiological roles». Neuropharmacology. 56: 303–9. PMID 18721822. doi:10.1016/j.neuropharm.2008.07.034
Villmann C, Oertel J, Melzer N, Becker CM (2009). «Recessive hyperekplexia mutations of the glycine receptor [alpha]-1 subunit affect cell surface integration and stability». Journal of Neurochemistry. 111: 837–847. PMID 19732286. doi:10.1111/j.1471-4159.2009.06372.x
Bormann (1993). «Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers». EMBO Journal. 12: 3729–37. PMC 413654. PMID 8404844. doi:10.1002/j.1460-2075.1993.tb06050.x
Meyer (1995). «Identification of a Gephyrin Binding Motif on the Glycine Receptor Beta Subunit». Neuron. 15: 563–572. PMID 7546736. doi:10.1016/0896-6273(95)90145-0
Rees. «Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)». Human Molecular Genetics. 11: 853–860. PMID 11929858. doi:10.1093/hmg/11.7.853
Rousseau. «The Glycine Transporter GlyT2 Controls the Dynamics of Synaptic Vesicle Refilling in Inhibitory Spinal Cord Neurons». Journal of Neuroscience. 28: 9755–68. PMID 18815261. doi:10.1523/JNEUROSCI.0509-08.2008
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ (2006). «Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease». Nature Genetics. 38: 801–806. PMC 3204411. PMID 16751771. doi:10.1038/ng1814
Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. «Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia». Journal of Biological Chemistry. 278: 24688–96. PMID 12684523. doi:10.1074/jbc.M301070200
Fritschy (2008). «Gephyrin: where do we stand, where do we go?». Trends in Neurosciences. 31: 257–264. PMID 18403029. doi:10.1016/j.tins.2008.02.006
Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004). «The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering» (PDF). Journal of Neuroscience. 24: 5816–26. PMID 15215304. doi:10.1523/JNEUROSCI.1184-04.2004
Luef. «The effect of levetiracetam in startle disease». Journal of Neurology. 254: 808–9. PMID 17401745. doi:10.1007/s00415-006-0437-z
Vigevano (1989). «Startle disease: an avoidable cause of sudden infant death». Lancet. 1. 216 páginas. PMID 2563117. doi:10.1016/s0140-6736(89)91226-9
Kirstein (1958). «A Family with Emotionally Precipitated Drop Seizures». Acta Psychiatrica et Neurologica. 33: 471–6. doi:10.1111/j.1600-0447.1958.tb03533.x
Kok (1962). «An Unidentified Hereditary Disease». Lancet. 279. 1359 páginas. doi:10.1016/S0140-6736(62)92475-3
Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012

infoescola.com

«Hiperecplexia - causas, sintomas, tratamentos». InfoEscola. Consultado em 7 de fevereiro de 2020. Os ataques habitualmente estão relacionados com o aumento do tônus muscular e clônus (série de contrações musculares involuntárias) espontâneo. Em certos casos, pode ocorrer perda de tônus muscular associada a uma sensação de enrijecimento da musculatura.

nih.gov

ncbi.nlm.nih.gov

van den Maagdenberg AM, Tijssen MA, Bakker MJ, van Dijk JG. «Startle Syndromes». Lancet Neurology. 5: 513–524. PMID 16713923. doi:10.1016/S1474-4422(06)70470-7
van de Warrenburg. «Persisting Hyperekplexia After Idiopathic, Self-Limiting Brainstem Encephalopathy». Movement Disorders. 22: 1017–20. PMID 17415799. doi:10.1002/mds.21411
Koning-Tijssen. «Hyperekplexia in the Neonate». Movement Disorders. 15: 1293–6. PMID 11104232. doi:10.1002/1531-8257(200011)15:6<1293::aid-mds1047>3.0.co;2-k
Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012
Lynch. «Native glycine receptor subtypes and their physiological roles». Neuropharmacology. 56: 303–9. PMID 18721822. doi:10.1016/j.neuropharm.2008.07.034
Villmann C, Oertel J, Melzer N, Becker CM (2009). «Recessive hyperekplexia mutations of the glycine receptor [alpha]-1 subunit affect cell surface integration and stability». Journal of Neurochemistry. 111: 837–847. PMID 19732286. doi:10.1111/j.1471-4159.2009.06372.x
Bormann (1993). «Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers». EMBO Journal. 12: 3729–37. PMC 413654. PMID 8404844. doi:10.1002/j.1460-2075.1993.tb06050.x
Meyer (1995). «Identification of a Gephyrin Binding Motif on the Glycine Receptor Beta Subunit». Neuron. 15: 563–572. PMID 7546736. doi:10.1016/0896-6273(95)90145-0
Rees. «Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)». Human Molecular Genetics. 11: 853–860. PMID 11929858. doi:10.1093/hmg/11.7.853
Rousseau. «The Glycine Transporter GlyT2 Controls the Dynamics of Synaptic Vesicle Refilling in Inhibitory Spinal Cord Neurons». Journal of Neuroscience. 28: 9755–68. PMID 18815261. doi:10.1523/JNEUROSCI.0509-08.2008
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ (2006). «Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease». Nature Genetics. 38: 801–806. PMC 3204411. PMID 16751771. doi:10.1038/ng1814
Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. «Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia». Journal of Biological Chemistry. 278: 24688–96. PMID 12684523. doi:10.1074/jbc.M301070200
Fritschy (2008). «Gephyrin: where do we stand, where do we go?». Trends in Neurosciences. 31: 257–264. PMID 18403029. doi:10.1016/j.tins.2008.02.006
Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004). «The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering» (PDF). Journal of Neuroscience. 24: 5816–26. PMID 15215304. doi:10.1523/JNEUROSCI.1184-04.2004
Tijssen, Marina AJ; Rees, Mark I. (1993). «Hyperekplexia». In: Adam, Stephanie E.; Ardinger; Pagon; Wallace; Bean; Stephens; Amemiya. GeneReviews®. University of Washington, Seattle. Seattle (WA): [s.n.] PMID 20301437
Luef. «The effect of levetiracetam in startle disease». Journal of Neurology. 254: 808–9. PMID 17401745. doi:10.1007/s00415-006-0437-z
Vigevano (1989). «Startle disease: an avoidable cause of sudden infant death». Lancet. 1. 216 páginas. PMID 2563117. doi:10.1016/s0140-6736(89)91226-9
Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012

ru.nl

repository.ubn.ru.nl

Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012
Tijssen. «Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family» (PDF). Archives of Neurology. 52: 578–582. PMID 7763205. doi:10.1001/archneur.1995.00540300052012

ucl.ac.uk

discovery.ucl.ac.uk

Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004). «The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering» (PDF). Journal of Neuroscience. 24: 5816–26. PMID 15215304. doi:10.1523/JNEUROSCI.1184-04.2004

zenodo.org

Lynch. «Native glycine receptor subtypes and their physiological roles». Neuropharmacology. 56: 303–9. PMID 18721822. doi:10.1016/j.neuropharm.2008.07.034