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Neuronal nicotinic acetylcholine receptors: From the genetic analysis to neurological diseases

Biochemical pharmacology, 2008-11, Vol.76 (10), p.1175-1183

2008

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Fluorescent annulated imidazo[4,5- c ]isoquinolines via a GBB-3CR/imidoylation sequence - DNA-interactions in pUC-19 gel electrophoresis mobility shift assay

Organic & biomolecular chemistry, 2022-05, Vol.20 (17), p.3598-3604

2022

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Cutaneous melanoma in Birt–Hogg–Dubé syndrome: part of the clinical spectrum?

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e132-e133

2018

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Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

BMC medical genetics, 2018-03, Vol.19 (1), p.45-45, Article 45

2018

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A Potassium Channel Mutation in Neonatal Human Epilepsy

Science (American Association for the Advancement of Science), 1998-01, Vol.279 (5349), p.403-406

1998

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Benign familial neonatal convulsions: Always benign?

Epilepsy research, 2007-03, Vol.73 (3), p.245-249

2007

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Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Proceedings of the National Academy of Sciences - PNAS, 2001-10, Vol.98 (21), p.12272-12277

2001

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Upstream open reading frames regulate cannabinoid receptor 1 expression under baseline conditions and during cellular stress

Molecular and cellular endocrinology, 2015-01, Vol.399, p.103-109

2015

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Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample

PloS one, 2016-04, Vol.11 (4), p.e0152984

2016

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Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

Epilepsia (Copenhagen), 1999-09, Vol.40 (9), p.1198-1209

1999

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An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Human molecular genetics, 1997-06, Vol.6 (6), p.943-947

1997

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Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

British journal of pharmacology, 1998-10, Vol.125 (4), p.751-760

1998

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Annals of neurology, 1999-09, Vol.46 (3), p.305-312

1999

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Ion channels and epilepsy in man and mouse

Current Opinion in Genetics & Development, 2000-06, Vol.10 (3), p.286-291

2000

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Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis

Neurology, 1998-04, Vol.50 (4), p.909

1998

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Cancer-associated genodermatoses

Hautarzt, 2021-04, Vol.72 (4), p.288-294

2021

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Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever

European journal of pediatrics, 2008-07, Vol.167 (7), p.827-828

2008

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Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE

Neurology, 2011-04, Vol.76 (14), p.1272

2011

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Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy

Epilepsia (Copenhagen), 2000-05, Vol.41 (5), p.529-535

2000

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Expression of nicotinic acetylcholine receptors in Alzheimer’s disease: postmortem investigations and experimental approaches

Behavioural brain research, 2000-08, Vol.113 (1), p.207-215

2000

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature genetics, 1995-10, Vol.11 (2), p.201-203

1995

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Neuronal nicotinic receptors in human epilepsy

European journal of pharmacology, 2000-03, Vol.393 (1), p.243-247

Steinlein, Ortrud K

2000

Volltextzugriff (PDF)

Fluorescent annulated imidazo[4,5-]isoquinolines a GBB-3CR/imidoylation sequence - DNA-interactions in pUC-19 gel electrophoresis mobility shift assay

Organic & biomolecular chemistry, 2022-05, Vol.2 (17), p.3598-364

2022

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LGI1 : a gene involved in epileptogenesis and glioma progression?

Neurogenetics, 2005-05, Vol.6 (2), p.59-66

2005

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The new voltage gated potassium channel KCNQ5 and neonatal convulsions

Neuroreport, 2000-06, Vol.11 (9), p.2063-2067

2000

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Neuronal nicotinic acetylcholine receptors: From the genetic analysis to neurological diseases

Fluorescent annulated imidazo[4,5- c ]isoquinolines via a GBB-3CR/imidoylation sequence - DNA-interactions in pUC-19 gel electrophoresis mobility shift assay

Cutaneous melanoma in Birt–Hogg–Dubé syndrome: part of the clinical spectrum?

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

A Potassium Channel Mutation in Neonatal Human Epilepsy

Benign familial neonatal convulsions: Always benign?

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Upstream open reading frames regulate cannabinoid receptor 1 expression under baseline conditions and during cellular stress

Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample

Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine

An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

Ion channels and epilepsy in man and mouse

Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis

Cancer-associated genodermatoses

Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever

Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE

Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy

Expression of nicotinic acetylcholine receptors in Alzheimer’s disease: postmortem investigations and experimental approaches

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Neuronal nicotinic receptors in human epilepsy

Fluorescent annulated imidazo[4,5-]isoquinolines a GBB-3CR/imidoylation sequence - DNA-interactions in pUC-19 gel electrophoresis mobility shift assay

LGI1 : a gene involved in epileptogenesis and glioma progression?

The new voltage gated potassium channel KCNQ5 and neonatal convulsions

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