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Neurology, Neuropsychiatry, Psychosomatics

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Online-first Association of carriers of single nucleotide polymorphisms rs206787 and rs516535 in gene BRD2 and rs3743123 in gene GJD2 with juvenile myoclonic epilepsy of Caucasian patients in the Siberia Abstract  similar documents
O. S. Shilkina, N. A. Shnayder, S. N. Zobova, D. V. Dmitrenko, P. V. Moskaleva
"... polymorphisms (SNPs) rs206787 and rs516535 in gene BRD2 and rs3743123 in gene GJD2, from samples of 79 JME ..."
 
Vol 11, No 4 (2019) Association of the carriage of BRD2 rs206787 and rs516535 and GJD2 rs3743123 polymorphisms with juvenile myoclonic epilepsy in Caucasian patients of Siberia Abstract  similar documents
O. S. Shilkina, N. A. Shnayder, S. N. Zobova, D. V. Dmitrenko, P. V. Moskaleva
"... ; the association of JME with the carriage of polymorphic allelic variants of the BRD2 (EJM3 locus) and GJD2 (EJM2 ..."
 
Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY Epidemiology of juvenile myoclonic epilepsy Abstract  similar documents
O. S. Shilkina, N. A. Schnaider
"... The article presents information on the definition of juvenile myoclonic epilepsy (JME ..."
 
Vol 10, No 1S (2018): СПЕЦВЫПУСК: ЭПИЛЕПСИЯ Juvenile myoclonic epilepsy: neurophysiological aspects Abstract  similar documents
O. S. Shilkina, N. A. Shnaider, D. V. Dmitrenko, K. T. Kim
"... of juvenile myoclonic epilepsy (JME) in Russia and foreign countries. Materials and methods. The authors ..."
 
Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY Analysis of hormone-dependent pathology in female patients with juvenile myoclonic epilepsy Abstract  similar documents
D. V. Anisimova, R. V. Magzhanov, P. N. Vlasov, V. A. Petrukhin, E. B. Tsevtsivadze, S. R. Nurmukhametova
"... with juvenile myoclonic epilepsy (JME) and to comparatively analyze identified syndromes. Patients and methods ..."
 
Vol 6, No 1S (2014): Special issue "Epilepsy" Features of the Gestation Course, Delivery, and Postpartum Period in Women with Juvenile Myoclonic Epilepsy Abstract  similar documents
A. V. Yakunina
"... myoclonic epilepsy (JME). In most cases, the course of JME was favorable during pregnancy; so administration ..."
 
Online-first Association of carriers of single nucleotide polymorphisms rs1143634 and rs16944 in gene Il-1B and rs6265 in gene BDNF with temporal lobe epilepsy Abstract  similar documents
Y. S. Panina, D. V. Dmitrenko, N. A. Shnayder, E. V. Egorova, A. A. Usoltseva
"... (BDNF) может быть связана с носительством однонуклеотидного полиморфизма (ОНП) rs6265 гена BDNF ..."
 
Vol 11, No 2 (2019) Association of the carriage of IL-1B rs1143634 and rs16944 polymorphisms and BDNF rs6265 polymorphism with temporal lobe epilepsy Abstract  PDF (Eng)  similar documents
Yu. S. Panina, D. V. Dmitrenko, N. A. Shnaider, E. V. Egorova, A. A. Usoltseva
"... исследования – изучение ассоциации носительства ОНП rs16944 и rs1143634 гена IL1B и rs6265 гена BDNF с ..."
 
No 1S (2016): The pattern of female genital hormonal disease in juvenile myoclonic epilepsy Abstract  similar documents
D. V. Anisimova, R. V. Magzhanov, P. N. Vlasov, V. A. Petrukhin, E. B. Tsevtsevadze, S. R. Nurmukhametova, F. Yu. Garifullina
"... in juvenile myoclonic epilepsy (JME). Patients and methods. The concentrations of sex steroid and tropic ..."
 
Online-first Association of carriers of single nucleotide polymorphisms rs1143634 and rs16944 of the Il-1B gene and rs6265 of the BDNF gene with temporal lobe epilepsy Abstract  similar documents
Y. S. Panina, D. V. Dmitrenko, N. A. Shnayder, E. V. Egorova, A. A. Usoltseva
"... исследования – изучение ассоциации носительства ОНП rs16944 и rs1143634 гена IL1B и rs6265 гена BDNF с ..."
 
Vol 7, No 1S (2015): Special issue "Epilepsy" Efficacy of generic levetiracetam (epiterra) in monotherapy for epilepsy in adult patients: preliminary results Abstract  similar documents
V. A. Karlov, P. N. Vlasov, I. A. Zhidkova
"... ) in adult patients with focal epilepsy (FE) or juvenile myoclonic epilepsy (JME) who took the drug for і6 ..."
 
Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY Cognitive and emotional changes in patients with juvenile myoclonic epilepsy Abstract  similar documents
R. V. Magzhanov, D. V. Anisimova, P. N. Vlasov, V. A. Petrukhin, E. B. Tsevtsivadze, S. R. Nurmukhametova
"... and depression) in patients with juvenile myoclonic epilepsy (JME) and to evaluate the role of a hormonal ..."
 
Vol 10, No 1 (2018) G308A tumor necrosis factor-α gene polymorphism and depression in an open male population aged 25–64 years from Novosibirsk (an epidemiological study according to the WHO MONICA-psychosocial program) Abstract  similar documents
I. V. Gagulin, E. A. Gromova, A. V. Gafarova, V. V. Gafarov
"... депрессии в мужской популяции 25–64 лет составила: 29% (УД – 25,9%, БД – 3,1%). Генотип G/G гена ФНОα ..."
 
Vol 11, No 2 (2019) Association of DRD2/ANKK1 Taq1A polymorphism with depression in an open 45–64 year-old male population (international epidemiological HAPIEE and WHO MONICA programs) Abstract  PDF (Eng)  similar documents
V. V. Gafarov, E. A. Gromova, D. O. Panov, V. N. Maximov, I. V. Gagulin, A. V. Gafarova
"... достоверная связь между носительством гена Taq1A (аллель T) и депрессией у мужчин 45–64 лет ..."
 
Vol 4, No 1 (2012) Association of the dopamine receptor (DRD4, DAT) gene polymorphisms with vital exhaustion in an open population among 25—64-year-old men (Novosibirsk): Epidemiological study according to the WHO MONICA-psychosocial program Abstract  similar documents
Valery Vasilyevich Gafarov, M I Voyevoda, E A Gromova, V N Maksimov, A V Gafarova, I V Gagulin, N S Yudin, T M Mishakova
"... Ассоциация полиморфизма генов дофаминергической системы (DRD4, DAT) с жизненным истощением в ..."
 
Online-first Analysis of the association of the PRDM12 gene with pain sensitivity in individuals with psychoactive substance dependence Abstract  similar documents
E. G. Poltavskaya, D. N. Savochkina
"... от генотипа rs10121864 гена PRDM12. Пациенты и методы. Обследовано 103 человека с зависимостью от ..."
 
Vol 10, No 2 (2018) Parkinson's disease and polymorphisms of the glutamatergic system genes GRIN2A, SLC1A2, and GRIK4 Abstract  similar documents
Yu. S. Mironova, I. A. Zhukova, N. G. Zhukova, S. A. Ivanova, V. M. Alifirova, A. S. Boiko, D. Z. Osmanova, O. P. Izhboldina, A. V. Latypova
"... исследования – изучение ассоциаций БП с полиморфными вариантами генов глутаматергической системы: GRIN2A ..."
 
Online-first GENETIC RISK FACTORS FOR THE DEVELOPMENT OF BEHAVIORAL ADVERSE DRUG REACTIONS IN PATIENTS WITH EPILEPSY TAKING LEVETIRACETAM Abstract  similar documents
A. A. Usoltseva, D. V. Dmitrenko, S. N. Zobova, E. N. Bochanova, N. A. Shnayder
"... исследование носительства ОНВ rs1800497 гена DRD2 (DRD2/ANKK1 Taq1A), rs4680 гена COMT,  rs1611115 гена DBH ..."
 
Vol 11, No 4 (2019) Genetic risk factors for behavioral adverse reactions in epileptic patients taking levetiracetam Abstract  similar documents
A. A. Usoltseva, D. V. Dmitrenko, S. N. Zobova, E. N. Bochanova, N. A. Shnayder
"... исследование носительства ОНВ rs1800497 гена DRD2 (DRD2/ANKK1 Taq1A), rs4680 гена COMT, rs1611115 гена DBH ..."
 
Vol 11, No 3 (2019) Mitochondrial genome and risk of multiple sclerosis Abstract  similar documents
A. N. Boyko, M. S. Kozin, G. Zh. Osmak, O. G. Kulakova, O. O. Favorova
"... выявлена достоверная ассоциация с РС аллеля А гена MT-ND5 (m. 13708G>A) (р=0,03; ОШ 1,89; 95% ДИ 1,11–3 ..."
 
Vol 4, No 4 (2012) Analysis of the contribution of -5t/c polymorphism in the GP1BA gene to the development of ischemic stroke in young patients Abstract  similar documents
V I Skvortsova, E A Koltsova, Ekaterina Igorevna Kimelfeld, S A Limborskaya, P A Slominsky, T V Tupitsyna
"... Проводилось изучение влияния -5Т/С-полиморфизма гена GP1BA на риск развития ишемического инсульта ..."
 
Vol 8, No 1 (2016) SNAP-25 gene polymorphism and cognitive resource in patients with stroke sequels Abstract  similar documents
V. B. Vilyanov, G. N. Kobozev
"... ишемического (ИИ) и геморрагического (ГИ) инсульта полиморфизмов гена SNAP-25. Пациенты и методы. Обследовано ..."
 
Vol 10, No 1S (2018): СПЕЦВЫПУСК: ЭПИЛЕПСИЯ A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism Abstract  similar documents
N. N. Savelieva, A. V. Yakunina, I. E. Poverennova
"... гена BCKDHB  (chr6:80910740G>A, rs386834233) и микродупликация сегмента 22-й хромосомы. Обсуждаются ..."
 
Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes Abstract  similar documents
M. B. Mironov, M. Yu. Bobylova, S. G. Burd, T. M. Krasilshchikova, M. M. Gunchenko, M. N. Sarzhina, T. T. Batysheva
"... Представлено описание пациентки 6 лет с эпилепсией, обусловленной мутациями в генах SCN2A и PCDH19 ..."
 
Vol 4, No 2S (2012): Сognitive and other neuropsychiatric disorders Mental disorders in Huntington’s disease Abstract  similar documents
S. A. Klyushnikov, E. N. Yudina, S. N. Illarioshkin, I. A. Ivanova-Smolenskaya
"... нейропсихологических характеристик асимптомных носителей мутантного гена БГ из группы риска с помощью батареи ..."
 
Vol 11, No 4 (2019) COMT Val158Met (rs4680) polymorphism and vital exhaustion in an open 45–64-year-old population (international epidemiological WHO MONICA and HAPIEE programs) Abstract  similar documents
V. V. Gafarov, E. A. Gromova, D. O. Panov, V. N. Maksimov, I. V. Gagulin, E. A. Krymov, A. V. Gafarova
"... Цель исследования – изучить ассоциацию полиморфных генотипов rs4680 гена катехол-О ..."
 
Vol 6, No 2 (2014) A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders Abstract  similar documents
M.Yu Bobylova, M.B. Mironov, A.V. Kulikov, M.V Kazakova, M.A. Bogacheva, Yu.A. Tankevich, L.Yu. Glukhova, E.I Barletova, M.O. Abramov, K.Yu. Mukhin, G.E. Rudenskaya
 
Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches Abstract  similar documents
P. N. Vlasov, N. V. Orekhova, M. V. Antonyuk, N. V. Filatova, N. A. Schnaider, D. V. Dmitrenko, S. N. Zobova, I. E. Poverennova, A. V. Yakunina, V. A. Kalinin, S. K. Zyryanov, I. F. Tishchenkova
"... низких суточных доз ВК. Частота встречаемости среди ОНП гена CYP2C9 оказалась максимальной: CYP2C9*1/*1 ..."
 
Vol 10, No 4 (2018) Pharmacogenetics of schizophrenia in real clinical practice: a clinical case Abstract  similar documents
R. F. Nasyrova, N. A. Schnaider, K. O. Mironov, G. A. Shipulin, O. P. Dribnokhodova, E. A. Golosov, M. Yu. Tolmachev, B. V. Andreev, A. A. Kurylev, L. Sh. Akhmetova, О. V. Limankin, N. G. Neznanov
"... фармакогенетического тестирования у нее выявлено гомозиготное носительство нефункционального аллельного варианта CYP2D6 ..."
 
Vol 9, No 1 (2017) The genetic basis of Parkinson's disease Abstract  similar documents
A. A. Tappakhov, T. E. Popova, T. Ya. Nikolaeva, P. I. Gurieva, N. A. Shnaider, M. M. Petrova, M. R. Sapronova
"... пенетрантности гена, а также смерти пациента до дебюта заболевания. Активное внедрение молекулярно-генетических ..."
 
Vol 8, No 1 (2016) Role of lipoprotein (a) in the development of ischemic stroke and other cardiovascular diseases Abstract  similar documents
N. A. Pizov, N. V. Pizova
"... . Приведены данные о генетической детерминированности и вариабельности гена Апо (а). Представлены результаты ..."
 
Vol 5, No 2S (2013): Special issue "Stroke" Epidemiology and etiology of strokes in babies Abstract  similar documents
Olga Aleksandrovna Lvova, N N Kuznetsov, V V Gusev, S A Volkhina
"... признаками внутриутробного инфицирования, врожденными пороками сердца, носители мажорных мутаций в генах ..."
 
Vol 7, No 3 (2015) The late diagnosis of double cortex syndrome in a 36-year-old woman with resistant atonic seizures Abstract  similar documents
N. A. Shnayder, D. V. Dmitrenko, Yu. B. Govorina, E. A. Kantimirova, O. V. Alekseeva, A. A. Molgachev, A. A. Makarkin
"... частота в популяции составляет 1 на 200 тыс. Причина заболевания – мутация гена DCX (синонимы: DBCN, XLIS ..."
 
Vol 5, No 4 (2013) A case of Niemann – Pick disease type C Abstract  similar documents
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova
"... современная информация об этиологии и патогенезе данной формы гликосфинголипидоза, установленных генных ..."
 
Vol 7, No 3 (2015) Hereditary cerebellar ataxias with polyneuropathy Abstract  similar documents
Svetlana Vasilyevna Kopishinskaya
"... мутантный ген и сопутствующие симптомы. Дифференциальную диагностику мозжечковых атаксий следует начинать с ..."
 
Vol 8, No 4 (2016) INTERMEDIATE PHENOTYPES OF OBSTRUCTIVE SLEEP APNEA/HYPOPNEA SYNDROME Abstract  similar documents
N. A. Shnayder, M. M. Petrova, I. V. Demko, O. V. Alekseeva
"... заболевания. Описаны гены, отвечающие за предрасположенность к развитию четырех основных фенотипов СОАГС ..."
 
Vol 6, No 4 (2014) The epidemiological, clinical, and genetic characteristics of Parkinson’s disease (in case of Zheleznogorsk) Abstract  similar documents
M. R. Sapronova, N. A. Shnaider
"... экзоне гена LRRK2, играющей роль в развитии как моногенных, так и спорадических случаев БП. В статье ..."
 
Vol 6, No 1S (2014): Special issue "Epilepsy" Genetics of Epilepsy: What for and How to Examine Children with Epilepsy E.D. Belousova Abstract  similar documents
E. D. Belousova
"... продолженной спайк-волновой активностью во сне: у 17,6% детей с этим синдромом обнаружена мутация гена GRIN2A ..."
 
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