Lista de obras - Fritz Zimprich - Dominio Público Uruguay

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

artículo científico publicado en 2008

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

article

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop

artículo científico publicado en 2014

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

artículo científico publicado en 2011

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

artículo científico publicado en 2009

Altered expression of voltage-dependent calcium channel alpha(1) subunits in temporal lobe epilepsy with Ammon's horn sclerosis

artículo científico publicado en 2002

Altersepilepsie

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

article

Ancient and recent positive selection transformed opioid cis-regulation in humans

artículo científico publicado en 2005

Andreas Rett and benign familial neonatal convulsions revisited

artículo científico publicado en 2006

Associations between co-medications and survival in ALS-a cohort study from Austria

artículo científico publicado en 2015

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

artículo científico publicado en 2013

Biochemical, immunological, and pharmacological characterization of GABAA-benzodiazepine receptor subtypes

artículo científico publicado el 1 de enero de 1992

Buffering intracellular calcium disrupts motoneuron development in intact zebrafish embryos

article

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

Calcium Channels in Neuroblastoma Cell Growth Cones

artículo científico publicado en 1996

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society

artículo científico publicado en 2016

Clinical seizure lateralization in frontal lobe epilepsy.

artículo científico publicado en 2007

Coronavirus induced primary demyelination: indications for the involvement of a humoral immune response

article

DEPDC5 mutations in genetic focal epilepsies of childhood

artículo científico publicado en 2014

Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy

artículo científico publicado en 2009

Epidemiology of Amyotrophic Lateral Sclerosis and Effect of Riluzole on Disease Course

scholarly article by Hakan Cetin et al published 2015 in Neuroepidemiology

Epidemiology of myasthenia gravis in Austria: rising prevalence in an ageing society

artículo científico publicado en 2012

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

artículo científico publicado en 2016

Expression of adhesion molecules and histocompatibility antigens at the blood-brain barrier.

artículo científico publicado en 1991

From eugenic euthanasia to habilitation of "disabled'' children: Andreas Rett's contribution.

artículo científico publicado en 2009

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

artículo científico publicado en 2010

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

artículo científico publicado en 2012

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genetik der Epilepsien

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

artículo científico publicado en 2017

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

artículo científico publicado en 2017

High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria

scientific article published on 16 January 2019

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

artículo científico publicado en 2022

Iodinated contrast agents in patients with myasthenia gravis: a retrospective cohort study

artículo científico publicado en 2017

Lack of Association Between ABCC2 Gene Variants and Treatment Response in Epilepsy ⬇️

artículo científico publicado el 1 de enero de 2012

Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.

artículo científico publicado en 2006

Lateralization of language function in epilepsy patients: A high-density scalp-derived event-related potentials (ERP) study

artículo científico

Management of Autoimmune Encephalitis: An Observational Monocentric Study of 38 Patients

artículo científico publicado en 2018

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

artículo científico publicado en 2022

Microglial cells are a component of the perivascular glia limitans

artículo científico publicado en 1991

Multifocal motor neuropathy in Austria: a nationwide survey of clinical features and response to treatment

artículo científico publicado en 2018

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

artículo científico publicado en 2011

Nucleocapsid or spike protein-specific CD4+ T lymphocytes protect against coronavirus-induced encephalomyelitis in the absence of CD8+ T cells.

artículo científico publicado en 1991

Pharmacoresistance in epilepsy: a pilot PET study with the P-glycoprotein substrate R-[(11)C]verapamil

artículo científico publicado en 2007

Postictal psychosis in temporal lobe epilepsy: a case-control study

artículo científico publicado en 2013

Psychoses in epilepsy: A comparison of postictal and interictal psychoses

artículo científico publicado en 2016

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

artículo científico publicado en 2013

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

artículo científico publicado el 25 de enero de 2013

Rare gene deletions in genetic generalized and Rolandic epilepsies

artículo científico publicado en 2018

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

Real-time measurements of calcium dynamics in neurons developing in situ within zebrafish embryos

artículo científico publicado en 1998

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

Relationship Between Age, Gender, and Race in Patients Presenting With Myasthenia Gravis With Only Ocular Manifestations

artículo científico publicado en 2015

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy

artículo científico publicado en 2013

Role of LINGO1 polymorphisms in Parkinson's disease

artículo científico publicado en 2009

Severe Myasthenic Manifestation of Leptospirosis Associated with New Sequence Type of Leptospira interrogans

artículo científico publicado en 2019

Subgroup Stratification and Outcome in Recently Diagnosed Generalized Myasthenia Gravis

scientific article published on 08 July 2020

The clinical impact of pharmacogenetics on the treatment of epilepsy

artículo científico publicado en 2008

The effect of early prednisolone treatment on the generalization rate in ocular myasthenia gravis.

artículo científico publicado en 2012

The receptor for advanced glycation endproducts and its ligands in patients with myasthenia gravis

artículo científico publicado en 2012

The stigma of mental illness: anticipation and attitudes among patients with epileptic, dissociative or somatoform pain disorder

artículo científico publicado en 2007

[Malignant hyperthermia]

artículo científico publicado en 2003

Lista de obras de Fritz Zimprich

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

Altered expression of voltage-dependent calcium channel alpha(1) subunits in temporal lobe epilepsy with Ammon's horn sclerosis

Altersepilepsie

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Ancient and recent positive selection transformed opioid cis-regulation in humans

Andreas Rett and benign familial neonatal convulsions revisited

Associations between co-medications and survival in ALS-a cohort study from Austria

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

Biochemical, immunological, and pharmacological characterization of GABAA-benzodiazepine receptor subtypes

Buffering intracellular calcium disrupts motoneuron development in intact zebrafish embryos

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Calcium Channels in Neuroblastoma Cell Growth Cones

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society

Clinical seizure lateralization in frontal lobe epilepsy.

Coronavirus induced primary demyelination: indications for the involvement of a humoral immune response

DEPDC5 mutations in genetic focal epilepsies of childhood

Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy

Epidemiology of Amyotrophic Lateral Sclerosis and Effect of Riluzole on Disease Course

Epidemiology of myasthenia gravis in Austria: rising prevalence in an ageing society

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Expression of adhesion molecules and histocompatibility antigens at the blood-brain barrier.

From eugenic euthanasia to habilitation of "disabled'' children: Andreas Rett's contribution.

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Genetic structure of Europeans: a view from the North-East

Genetik der Epilepsien

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

Iodinated contrast agents in patients with myasthenia gravis: a retrospective cohort study

Lack of Association Between ABCC2 Gene Variants and Treatment Response in Epilepsy ⬇️

Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy.

Lateralization of language function in epilepsy patients: A high-density scalp-derived event-related potentials (ERP) study

Management of Autoimmune Encephalitis: An Observational Monocentric Study of 38 Patients

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Microglial cells are a component of the perivascular glia limitans

Multifocal motor neuropathy in Austria: a nationwide survey of clinical features and response to treatment

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Nucleocapsid or spike protein-specific CD4+ T lymphocytes protect against coronavirus-induced encephalomyelitis in the absence of CD8+ T cells.

Pharmacoresistance in epilepsy: a pilot PET study with the P-glycoprotein substrate R-[(11)C]verapamil

Postictal psychosis in temporal lobe epilepsy: a case-control study

Psychoses in epilepsy: A comparison of postictal and interictal psychoses

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

Rare gene deletions in genetic generalized and Rolandic epilepsies

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Real-time measurements of calcium dynamics in neurons developing in situ within zebrafish embryos

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Relationship Between Age, Gender, and Race in Patients Presenting With Myasthenia Gravis With Only Ocular Manifestations

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy

Role of LINGO1 polymorphisms in Parkinson's disease

Severe Myasthenic Manifestation of Leptospirosis Associated with New Sequence Type of Leptospira interrogans

Subgroup Stratification and Outcome in Recently Diagnosed Generalized Myasthenia Gravis

The clinical impact of pharmacogenetics on the treatment of epilepsy

The effect of early prednisolone treatment on the generalization rate in ocular myasthenia gravis.

The receptor for advanced glycation endproducts and its ligands in patients with myasthenia gravis

The stigma of mental illness: anticipation and attitudes among patients with epileptic, dissociative or somatoform pain disorder

[Malignant hyperthermia]