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Familial cortical tremor with epilepsy and cerebellar pathological findings

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Τίτλος: Familial cortical tremor with epilepsy and cerebellar pathological findings
Συγγραφείς: van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI, Tijssen, MAJ
Πηγή: van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI & Tijssen, MAJ 2004, 'Familial cortical tremor with epilepsy and cerebellar pathological findings', Movement Disorders, vol. 19, no. 2, pp. 213-217. https://doi.org/10.1002/mds.10662
Έτος έκδοσης: 2004
Συλλογή: University of Groningen research database
Θεματικοί όροι: cortical tremor, myoclonus, epilepsy, neuropathology, ATAXIA TYPE 6, MYOCLONIC EPILEPSY, PURKINJE-CELL, CHROMOSOME 8Q23.3-Q24.1, LINKAGE, GENE, LOCALIZATION, ATROPHY, VARIANT, GOLGI
Περιγραφή: The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. (C) 2003 Movement Disorder Society
Τύπος εγγράφου: article in journal/newspaper
Γλώσσα: English
ISSN: 0885-3185
Relation: info:eu-repo/semantics/altIdentifier/wos/000189160700013; info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/0e27bdc4-8035-4dad-9239-a4a620df0b0f; info:eu-repo/semantics/altIdentifier/pissn/0885-3185
DOI: 10.1002/mds.10662
Διαθεσιμότητα: https://hdl.handle.net/11370/0e27bdc4-8035-4dad-9239-a4a620df0b0f
https://research.rug.nl/en/publications/0e27bdc4-8035-4dad-9239-a4a620df0b0f
https://doi.org/10.1002/mds.10662
Rights: info:eu-repo/semantics/restrictedAccess
Αριθμός Καταχώρησης: edsbas.FF10C06C
Βάση Δεδομένων: BASE
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  – Url: https://hdl.handle.net/11370/0e27bdc4-8035-4dad-9239-a4a620df0b0f#
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  Data: Familial cortical tremor with epilepsy and cerebellar pathological findings
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  Data: <searchLink fieldCode="AR" term="%22van+Rootselaar%2C+AF%22">van Rootselaar, AF</searchLink><br /><searchLink fieldCode="AR" term="%22Aronica%2C+E%22">Aronica, E</searchLink><br /><searchLink fieldCode="AR" term="%22Steur%2C+ENHJ%22">Steur, ENHJ</searchLink><br /><searchLink fieldCode="AR" term="%22Rozemuller-Kwakkel%2C+JM%22">Rozemuller-Kwakkel, JM</searchLink><br /><searchLink fieldCode="AR" term="%22de+Vos%2C+RAI%22">de Vos, RAI</searchLink><br /><searchLink fieldCode="AR" term="%22Tijssen%2C+MAJ%22">Tijssen, MAJ</searchLink>
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  Data: van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI & Tijssen, MAJ 2004, 'Familial cortical tremor with epilepsy and cerebellar pathological findings', Movement Disorders, vol. 19, no. 2, pp. 213-217. https://doi.org/10.1002/mds.10662
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  Data: The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. (C) 2003 Movement Disorder Society
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  Data: 10.1002/mds.10662
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1002/mds.10662
    Languages:
      – Text: English
    Subjects:
      – SubjectFull: cortical tremor
        Type: general
      – SubjectFull: myoclonus
        Type: general
      – SubjectFull: epilepsy
        Type: general
      – SubjectFull: neuropathology
        Type: general
      – SubjectFull: ATAXIA TYPE 6
        Type: general
      – SubjectFull: MYOCLONIC EPILEPSY
        Type: general
      – SubjectFull: PURKINJE-CELL
        Type: general
      – SubjectFull: CHROMOSOME 8Q23.3-Q24.1
        Type: general
      – SubjectFull: LINKAGE
        Type: general
      – SubjectFull: GENE
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      – SubjectFull: LOCALIZATION
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      – SubjectFull: VARIANT
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      – SubjectFull: GOLGI
        Type: general
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      – TitleFull: Familial cortical tremor with epilepsy and cerebellar pathological findings
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              Y: 2004
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            – TitleFull: van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI & Tijssen, MAJ 2004, 'Familial cortical tremor with epilepsy and cerebellar pathological findings', Movement Disorders, vol. 19, no. 2, pp. 213-217. https://doi.org/10.1002/mds.10662
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