Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor
Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 k...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
García-Martín, Elena [verfasserIn] Martínez, Carmen [verfasserIn] Alonso-Navarro, Hortensia [verfasserIn] Benito-León, Julián [verfasserIn] Lorenzo-Betancor, Oswaldo [verfasserIn] Pastor, Pau [verfasserIn] Puertas, Inmaculada [verfasserIn] Rubio, Lluisa [verfasserIn] López-Alburquerque, Tomás [verfasserIn] Agúndez, José A. G. [verfasserIn] Jiménez-Jiménez, Félix Javier [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2010 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Journal of neurology - [Darmstadt] : Steinkopff, 1891, 258(2010), 2 vom: 05. Sept., Seite 203-211 |
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| Übergeordnetes Werk: |
volume:258 ; year:2010 ; number:2 ; day:05 ; month:09 ; pages:203-211 |
| Links: |
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| DOI / URN: |
10.1007/s00415-010-5708-z |
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| Katalog-ID: |
SPR005341566 |
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| 245 | 1 | 0 | |a Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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| 520 | |a Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. | ||
| 650 | 4 | |a Essential tremor |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Genetics |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a GABA receptor Rho |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a GABRR polymorphisms |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Risk factors |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Martínez, Carmen |e verfasserin |4 aut | |
| 700 | 1 | |a Alonso-Navarro, Hortensia |e verfasserin |4 aut | |
| 700 | 1 | |a Benito-León, Julián |e verfasserin |4 aut | |
| 700 | 1 | |a Lorenzo-Betancor, Oswaldo |e verfasserin |4 aut | |
| 700 | 1 | |a Pastor, Pau |e verfasserin |4 aut | |
| 700 | 1 | |a Puertas, Inmaculada |e verfasserin |4 aut | |
| 700 | 1 | |a Rubio, Lluisa |e verfasserin |4 aut | |
| 700 | 1 | |a López-Alburquerque, Tomás |e verfasserin |4 aut | |
| 700 | 1 | |a Agúndez, José A. G. |e verfasserin |4 aut | |
| 700 | 1 | |a Jiménez-Jiménez, Félix Javier |e verfasserin |4 aut | |
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10.1007/s00415-010-5708-z doi (DE-627)SPR005341566 (SPR)s00415-010-5708-z-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl García-Martín, Elena verfasserin aut Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Martínez, Carmen verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Benito-León, Julián verfasserin aut Lorenzo-Betancor, Oswaldo verfasserin aut Pastor, Pau verfasserin aut Puertas, Inmaculada verfasserin aut Rubio, Lluisa verfasserin aut López-Alburquerque, Tomás verfasserin aut Agúndez, José A. G. verfasserin aut Jiménez-Jiménez, Félix Javier verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 258(2010), 2 vom: 05. Sept., Seite 203-211 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:258 year:2010 number:2 day:05 month:09 pages:203-211 https://dx.doi.org/10.1007/s00415-010-5708-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 258 2010 2 05 09 203-211 |
| spelling |
10.1007/s00415-010-5708-z doi (DE-627)SPR005341566 (SPR)s00415-010-5708-z-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl García-Martín, Elena verfasserin aut Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Martínez, Carmen verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Benito-León, Julián verfasserin aut Lorenzo-Betancor, Oswaldo verfasserin aut Pastor, Pau verfasserin aut Puertas, Inmaculada verfasserin aut Rubio, Lluisa verfasserin aut López-Alburquerque, Tomás verfasserin aut Agúndez, José A. G. verfasserin aut Jiménez-Jiménez, Félix Javier verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 258(2010), 2 vom: 05. Sept., Seite 203-211 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:258 year:2010 number:2 day:05 month:09 pages:203-211 https://dx.doi.org/10.1007/s00415-010-5708-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 258 2010 2 05 09 203-211 |
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10.1007/s00415-010-5708-z doi (DE-627)SPR005341566 (SPR)s00415-010-5708-z-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl García-Martín, Elena verfasserin aut Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Martínez, Carmen verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Benito-León, Julián verfasserin aut Lorenzo-Betancor, Oswaldo verfasserin aut Pastor, Pau verfasserin aut Puertas, Inmaculada verfasserin aut Rubio, Lluisa verfasserin aut López-Alburquerque, Tomás verfasserin aut Agúndez, José A. G. verfasserin aut Jiménez-Jiménez, Félix Javier verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 258(2010), 2 vom: 05. Sept., Seite 203-211 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:258 year:2010 number:2 day:05 month:09 pages:203-211 https://dx.doi.org/10.1007/s00415-010-5708-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 258 2010 2 05 09 203-211 |
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10.1007/s00415-010-5708-z doi (DE-627)SPR005341566 (SPR)s00415-010-5708-z-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl García-Martín, Elena verfasserin aut Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Martínez, Carmen verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Benito-León, Julián verfasserin aut Lorenzo-Betancor, Oswaldo verfasserin aut Pastor, Pau verfasserin aut Puertas, Inmaculada verfasserin aut Rubio, Lluisa verfasserin aut López-Alburquerque, Tomás verfasserin aut Agúndez, José A. G. verfasserin aut Jiménez-Jiménez, Félix Javier verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 258(2010), 2 vom: 05. Sept., Seite 203-211 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:258 year:2010 number:2 day:05 month:09 pages:203-211 https://dx.doi.org/10.1007/s00415-010-5708-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 258 2010 2 05 09 203-211 |
| allfieldsSound |
10.1007/s00415-010-5708-z doi (DE-627)SPR005341566 (SPR)s00415-010-5708-z-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl García-Martín, Elena verfasserin aut Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Martínez, Carmen verfasserin aut Alonso-Navarro, Hortensia verfasserin aut Benito-León, Julián verfasserin aut Lorenzo-Betancor, Oswaldo verfasserin aut Pastor, Pau verfasserin aut Puertas, Inmaculada verfasserin aut Rubio, Lluisa verfasserin aut López-Alburquerque, Tomás verfasserin aut Agúndez, José A. G. verfasserin aut Jiménez-Jiménez, Félix Javier verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 258(2010), 2 vom: 05. Sept., Seite 203-211 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:258 year:2010 number:2 day:05 month:09 pages:203-211 https://dx.doi.org/10.1007/s00415-010-5708-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 258 2010 2 05 09 203-211 |
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Enthalten in Journal of neurology 258(2010), 2 vom: 05. Sept., Seite 203-211 volume:258 year:2010 number:2 day:05 month:09 pages:203-211 |
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Enthalten in Journal of neurology 258(2010), 2 vom: 05. Sept., Seite 203-211 volume:258 year:2010 number:2 day:05 month:09 pages:203-211 |
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Essential tremor Genetics GABA receptor Rho GABRR polymorphisms Risk factors |
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Journal of neurology |
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García-Martín, Elena @@aut@@ Martínez, Carmen @@aut@@ Alonso-Navarro, Hortensia @@aut@@ Benito-León, Julián @@aut@@ Lorenzo-Betancor, Oswaldo @@aut@@ Pastor, Pau @@aut@@ Puertas, Inmaculada @@aut@@ Rubio, Lluisa @@aut@@ López-Alburquerque, Tomás @@aut@@ Agúndez, José A. G. @@aut@@ Jiménez-Jiménez, Félix Javier @@aut@@ |
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2010-09-05T00:00:00Z |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR005341566</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230520011925.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201001s2010 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00415-010-5708-z</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR005341566</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00415-010-5708-z-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">García-Martín, Elena</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2010</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. 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|
| author |
García-Martín, Elena |
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García-Martín, Elena ddc 610 bkl 44.90 misc Essential tremor misc Genetics misc GABA receptor Rho misc GABRR polymorphisms misc Risk factors Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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García-Martín, Elena |
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1432-1459 |
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610 ASE 44.90 bkl Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor Essential tremor (dpeaa)DE-He213 Genetics (dpeaa)DE-He213 GABA receptor Rho (dpeaa)DE-He213 GABRR polymorphisms (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 |
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ddc 610 bkl 44.90 misc Essential tremor misc Genetics misc GABA receptor Rho misc GABRR polymorphisms misc Risk factors |
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ddc 610 bkl 44.90 misc Essential tremor misc Genetics misc GABA receptor Rho misc GABRR polymorphisms misc Risk factors |
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ddc 610 bkl 44.90 misc Essential tremor misc Genetics misc GABA receptor Rho misc GABRR polymorphisms misc Risk factors |
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Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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García-Martín, Elena |
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Journal of neurology |
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García-Martín, Elena Martínez, Carmen Alonso-Navarro, Hortensia Benito-León, Julián Lorenzo-Betancor, Oswaldo Pastor, Pau Puertas, Inmaculada Rubio, Lluisa López-Alburquerque, Tomás Agúndez, José A. G. Jiménez-Jiménez, Félix Javier |
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gamma-aminobutyric acid (gaba) receptor rho (gabrr) polymorphisms and risk for essential tremor |
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Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
| abstract |
Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. |
| abstractGer |
Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. |
| abstract_unstemmed |
Abstract Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. |
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Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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Martínez, Carmen Alonso-Navarro, Hortensia Benito-León, Julián Lorenzo-Betancor, Oswaldo Pastor, Pau Puertas, Inmaculada Rubio, Lluisa López-Alburquerque, Tomás Agúndez, José A. G. Jiménez-Jiménez, Félix Javier |
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| score |
7.400923 |