Lista de obras - Katja Lohmann - Dominio Público Uruguay

MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

artículo científico publicado en 2022

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

scientific article published on 13 June 2018

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

artículo científico publicado en 2018

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

article

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

artículo científico publicado en 2019

A nonsense mutation in CHCHD2 in a patient with Parkinson disease

scientific article published on 13 January 2016

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

artículo científico publicado en 2013

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.

artículo científico publicado en 2017

A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

artículo científico publicado en 2017

A novel homozygous KY variant causing a complex neurological disorder

artículo científico publicado en 2020

A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia

artículo científico publicado en 2017

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

scientific article published on 22 November 2018

ATP13A2 variants in early-onset Parkinson's disease patients and controls

artículo científico publicado en 2009

Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?

artículo científico publicado en 2016

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

artículo científico publicado en 2015

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

artículo científico publicado en 2017

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature

scientific article published on 11 September 2020

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

artículo científico publicado en 2011

Association of Parkinson disease to PARK16 in a Chilean sample

artículo científico publicado en 2010

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

scientific article published on 26 October 2018

Autosomal dominant Parkinson's disease in a large German pedigree.

artículo científico publicado en 2011

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

artículo científico publicado en 2008

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

artículo científico publicado en 2017

Caffeine, creatine, GRIN2A and Parkinson's disease progression

artículo científico publicado en 2017

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

artículo científico publicado en 2020

Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis.

artículo científico publicado en 2010

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

artículo científico publicado en 2010

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

artículo científico publicado en 2020

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

artículo científico publicado en 2017

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

scientific article published on 20 June 2019

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

artículo científico publicado en 2014

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

scientific article published on 25 March 2019

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

artículo científico publicado en 2012

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

scientific article published on 02 May 2019

Discordant monozygotic Parkinson disease twins: Role of mitochondrial integrity

artículo científico publicado en 2020

Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar

scientific article published on 01 August 2018

Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp

artículo científico publicado en 2016

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression

artículo científico publicado en 2017

EIF2AK2 missense variants associated with early-onset generalized dystonia

artículo científico publicado en 2020

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

artículo científico publicado en 2014

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients

artículo científico publicado en 2010

Etiology of musician's dystonia: familial or environmental?

artículo científico publicado en 2009

Evaluating the role of TMEM230 variants in Parkinson's disease

artículo científico publicado en 2016

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

artículo científico

Exome sequencing for gene discovery: Time to set standard criteria

article

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

artículo científico publicado en 2014

Exome sequencing in a family with restless legs syndrome.

artículo científico publicado en 2012

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

scientific article published on 03 February 2017

Familial idiopathic basal ganglia calcification: unraveling the first genetic cause

artículo científico publicado en 2012

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

artículo científico publicado en 2018

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

artículo científico publicado en 2012

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

artículo científico publicado en 2009

Frequency of the D620N mutation in VPS35 in Parkinson disease

artículo científico publicado en 2012

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias

artículo científico publicado en 2017

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

artículo científico publicado en 2020

GNAL mutations and dystonia--reply

artículo científico publicado en 2014

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

artículo científico publicado en 2018

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease

artículo científico publicado en 2019

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

artículo científico publicado en 2009

Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes

artículo científico publicado en 2012

Genetics of Parkinson disease and other movement disorders

artículo científico

Genetics of dystonia: what's known? What's new? What's next?

artículo científico publicado en 2013

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only

artículo científico publicado en 2014

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

artículo científico publicado en 2013

Genotype-phenotype relations for the Parkinson's Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

artículo científico publicado en 2018

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

article

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

artículo científico publicado en 2012

Hereditary Dystonia Overview

artículo científico publicado en 2017

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

artículo científico publicado en 2008

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

scientific article published on 25 May 2019

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

artículo científico publicado en 2011

Identification and functional analysis of novel THAP1 mutations

artículo científico publicado en 2011

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.

artículo científico publicado en 2010

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation

scientific article published on 03 April 2020

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein

artículo científico publicado en 2017

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

artículo científico publicado en 2011

Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers

artículo científico publicado en 2017

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

scientific article published on 21 July 2008

Launching the movement disorders society genetic mutation database (MDSGene).

artículo científico publicado en 2016

Linking Huntington's Disease and X-Linked Dystonia Parkinsonism on the Molecular Level

scientific article published on 22 September 2020

MDR1 variants and risk of Parkinson disease. Association with pesticide exposure?

artículo científico publicado en 2009

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

artículo científico publicado en 2020

Mortalin mutations are not a frequent cause of early-onset Parkinson disease

artículo científico publicado en 2013

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

artículo científico publicado en 2018

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

scientific article published on 04 November 2019

Multi-omic landscaping of human midbrains identifies disease-relevant molecular targets and pathways in advanced-stage Parkinson's disease

artículo científico publicado en 2022

Munchausen syndrome by genetics: Next-generation challenges for clinicians

scientific article published on 03 February 2017

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

artículo científico publicado en 2010

Mutations in GNAL: a novel cause of craniocervical dystonia

artículo científico publicado en 2014

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts

artículo científico publicado en 2011

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

artículo científico publicado en 2009

Mutations in TUBB4A and spastic paraplegia.

artículo científico publicado en 2015

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

artículo científico publicado en 2018

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

artículo científico publicado en 2013

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

artículo científico publicado en 2015

Next generation sequencing and the future of genetic diagnosis

artículo científico publicado en 2014

No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia

artículo científico publicado en 2011

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

artículo científico publicado en 2017

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

artículo científico publicado en 2016

Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort

artículo científico publicado en 2013

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

artículo científico publicado en 2016

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

artículo científico

Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment

artículo científico publicado en 2019

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years

artículo científico publicado en 2018

Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders

artículo científico publicado en 2018

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

artículo científico publicado en 2019

NovelGNB1missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

artículo científico publicado en 2016

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases

scientific article published on 19 August 2020

PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

artículo científico publicado en 2011

PLA2G6mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology

scholarly article by Christine Klein et al published 6 October 2016 in Movement Disorders

Parkingene modifies the effect ofRLS4on the age at onset of restless legs syndrome (RLS)

Parkinson disease(s): is "Parkin disease" a distinct clinical entity?

artículo científico publicado en 2008

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.

artículo científico publicado en 2010

Private variants in PRKN are associated with late-onset Parkinson's disease

scientific article published on 11 May 2020

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

artículo científico publicado en 2013

RAB39B mutations are a rare finding in Parkinson disease patients.

artículo científico publicado en 2015

REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations

artículo científico publicado en 2015

Rapid-onset dystonia-parkinsonism: case report

artículo científico publicado en 2010

Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease

scientific article published on 08 April 2020

Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease

scientific article published on 01 October 2008

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

artículo científico publicado en 2013

Rediscovery of repeat expansions: Solving the unsolved cases

scientific article published on 23 August 2019

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons

artículo científico publicado en 2021

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

artículo científico publicado en 2016

Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility.

artículo científico publicado en 2010

Role of ANO3 mutations in dystonia: A large-scale mutational screening study

artículo científico publicado en 2019

Screening study of TUBB4A in isolated dystonia

artículo científico publicado en 2017

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

artículo científico publicado en 2016

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia

artículo científico publicado en 2015

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

scientific article published on 01 August 2019

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression

artículo científico publicado en 2014

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

artículo científico publicado en 2009

The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia

artículo científico publicado en 2012

The Promise and Limitations of Genome-wide Association Studies

artículo científico publicado en 2012

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

artículo científico publicado en 2010

The many faces of TUBB4A mutations

artículo científico publicado en 2014

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease

artículo científico publicado en 2014

The role of mutations in COL6A3 in isolated dystonia

artículo científico publicado en 2016

The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations

scientific article published on 23 June 2019

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations

artículo científico publicado en 2008

Truncating VPS16 mutations are rare in early-onset dystonia

scientific article published on 11 December 2020

Truncating mutations in THAP1 define the nuclear localization signal

artículo científico publicado en 2011

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations

artículo científico publicado en 2012

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations

artículo científico publicado en 2014

Update on the Genetics of Dystonia

artículo científico publicado en 2017

Utility and implications of exome sequencing in early-onset Parkinson's disease

artículo científico publicado en 2018

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

artículo científico publicado en 2013

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal

article

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

artículo científico publicado en 2013

Lista de obras de Katja Lohmann

<i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

A nonsense mutation in CHCHD2 in a patient with Parkinson disease

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.

A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

A novel homozygous KY variant causing a complex neurological disorder

A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

ATP13A2 variants in early-onset Parkinson's disease patients and controls

Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

Association of Parkinson disease to PARK16 in a Chilean sample

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

Autosomal dominant Parkinson's disease in a large German pedigree.

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

Caffeine, creatine, GRIN2A and Parkinson's disease progression

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis.

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

Discordant monozygotic Parkinson disease twins: Role of mitochondrial integrity

Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar

Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression

EIF2AK2 missense variants associated with early-onset generalized dystonia

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients

Etiology of musician's dystonia: familial or environmental?

Evaluating the role of TMEM230 variants in Parkinson's disease

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Exome sequencing for gene discovery: Time to set standard criteria

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Exome sequencing in a family with restless legs syndrome.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Familial idiopathic basal ganglia calcification: unraveling the first genetic cause

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Frequency of the D620N mutation in VPS35 in Parkinson disease

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

GNAL mutations and dystonia--reply

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes

Genetics of Parkinson disease and other movement disorders

Genetics of dystonia: what's known? What's new? What's next?

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Genotype-phenotype relations for the Parkinson's Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

Hereditary Dystonia Overview

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

Identification and functional analysis of novel THAP1 mutations

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.

Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

Launching the movement disorders society genetic mutation database (MDSGene).

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years