L. Ozelius

发表

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia

K. Simonyan, L. Fleysher, L. Ozelius, 2016, European journal of neurology.

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Kenneth Offit, Diether Lambrechts, Gil Atzmon, 2014, Nature Communications.

Expanded genetic screening panel for the Ashkenazi Jewish population

Judy H. Cho, H. Ostrer, I. Pe’er, 2015, Genetics in Medicine.

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

William B Dobyns, Allison Brashear, S. Bressman, 2004, Neuron.

Mutations in COQ2 in familial and sporadic multiple-system atrophy.

J. Trojanowski, S. Gilman, K. Shirahige, 2013, The New England journal of medicine.

Mutations in GNAL cause primary torsion dystonia

A. Lang, M. S. Luciano, S. Factor, 2012, Nature Genetics.

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription.

J. Gusella, L. Ozelius, J. Rutter, 1998, Cancer research.

The endophenotype and the phenotype: Temporal discrimination and adult‐onset dystonia

Cathal Walsh, Robert Whelan, Richard B Reilly, 2013, Movement disorders : official journal of the Movement Disorder Society.

TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress

Vijaya Ramesh, X. Breakefield, P. Hanson, 2003, Journal of neuroscience research.

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Jennifer Mulle, Nir Giladi, Karen Marder, 2012, PLoS genetics.

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

L. Ozelius, N. Ito, L. Ozelius, 2020, PloS one.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

William B Dobyns, Allison Brashear, L. Ozelius, 2015, Epilepsia.

Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations

A. Brashear, L. Ozelius, K. Sweadner, 2020, The Journal of biological chemistry.

Clinical spectrum of disease associated with ATP1A3 mutations

L. Ozelius, 2012, The Lancet Neurology.

Genetic evaluation in hereditary dystonia

C. Klein, L. Ozelius, 2012 .

Differential Binding of Cross-Reactive Anti-DNA Antibodies to Mesangial Cells: The Role of α-Actinin1

C. Putterman, P. Scherer, L. Ozelius, 2006, The Journal of Immunology.

G2019S mutation in the leucine‐rich repeat kinase 2 gene is not associated with multiple system atrophy

J. Jankovic, S. Gilman, C. Tanner, 2007, Movement disorders : official journal of the Movement Disorder Society.

Genetic and clinical features of primary torsion dystonia

S. Bressman, L. Ozelius, 2011, Neurobiology of Disease.

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function

J. Joung, X. Breakefield, Osmar Norberto de Souza, 2020, Molecular therapy. Nucleic acids.

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

S. Bressman, L. Ozelius, R. Kurlan, 2007, Neurology.

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

Judy H. Cho, Cameron D. Palmer, H. Ostrer, 2018, Human Genetics.

Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling

M. Babu, K. Simonyan, S. Chavali, 2018, Cell reports.

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

Judy H. Cho, Cameron D. Palmer, H. Ostrer, 2017, bioRxiv.

Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish‐Mennonites

S. Bressman, A. Deik, R. Saunders-Pullman, 2014, Movement disorders : official journal of the Movement Disorder Society.

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP 1 Mutation and a De Novo TOR 1 A GAG Deletion

L. Ozelius, H. B. Ferraz, Tania Fuchs, 2010 .

Reply to “ITD in Ashkenazi Jews — genetic drift or selection?”

L. Almasy, X. Breakefield, S. Fahn, 1995, Nature Genetics.

Isolated Cervical Dystonia: Management and Barriers to Care

Trisha J. Multhaupt-Buell, L. Ozelius, N. Sharma, 2020, Frontiers in Neurology.

Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations

Trisha J. Multhaupt-Buell, M. Brin, A. Lang, 2008, Movement disorders : official journal of the Movement Disorder Society.

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites

N. Risch, M. Tagliati, S. Bressman, 2007, American journal of medical genetics. Part A.

Myoclonus-dystonia

N. Risch, S. Bressman, L. Ozelius, 2010, Journal of Pediatric Neurology.

Diagnostic criteria for dystonia in DYT1 families

N. Risch, S. Fahn, S. Bressman, 2002, Neurology.

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

X. Breakefield, S. Fahn, L. Forsgren, 1994, Clinical genetics.

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

M. DiFiglia, R. Faull, C. Vanderburg, 2021, Journal of Neural Transmission.

X-Linked Dystonia-Parkinsonism: recent advances.

L. Ozelius, N. Sharma, D. Bragg, 2019, Current opinion in neurology.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

H. Ostrer, V. Vacic, H. Hakonarson, 2014, Human molecular genetics.

Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing

I. Haq, B. Snively, C. Whitlow, 2019, Movement disorders : official journal of the Movement Disorder Society.

A high-resolution linkage map of human 9q34.1.

J. Haines, D. Kwiatkowski, E. Henske, 1993, Genomics.

Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion

P. Shashidharan, L. Ozelius, Andreas I. Diplas, 2012, Journal of nucleic acids.

Search for a founder mutation in idiopathic focal dystonia from Northern Germany.

N. Risch, X. Breakefield, P. Vieregge, 1998, American journal of human genetics.

A genetic linkage map of human chromosome 9q.

J. Haines, J. Gusella, X. Breakefield, 1992, Genomics.

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

M. Brin, R. Burke, X. Breakefield, 1991, American journal of human genetics.

Clinical findings of a myoclonus-dystonia family with two distinct mutations

M. Brin, X. Breakefield, S. Bressman, 2002, Neurology.

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

J. Haines, T. Lerner, J. Gusella, 1993, American journal of human genetics.

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

J. Gusella, X. Breakefield, S. Fahn, 1991, American journal of human genetics.

Genetic analysis of three patients with an 18p− syndrome and dystonia

M. Brin, X. Breakefield, C. Klein, 1999, Neurology.

Cervical Dystonia Incidence and Diagnostic Delay in a Multiethnic Population

Sara C. LaHue, C. Tanner, S. Bressman, 2019, Movement disorders : official journal of the Movement Disorder Society.

The R98Q variation in DJ‐1 represents a rare polymorphism

S. Bressman, P. Pramstaller, P. Vieregge, 2004, Annals of neurology.

[Genetics of dystonia].

X. Breakefield, P. Pramstaller, P. Vieregge, 2000, Der Nervenarzt.

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

S. Bressman, P. Vieregge, L. Ozelius, 2005, Neurology.

Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene.

X. Breakefield, L. Ozelius, C. Konradi, 1992, Genomics.

REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers

K. Marder, A. Mirelman, Nir Giladi, 2015, Movement disorders : official journal of the Movement Disorder Society.

Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13

L. Ozelius, P. Kramer, A. Brashear, 2004, Movement disorders : official journal of the Movement Disorder Society.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.

S. Bressman, R. Saunders-Pullman, N. Schreiber-Agus, 2014, JIMD reports.

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A (DYT1) gene

S. Tsuji, T. Shimohata, T. Ikeuchi, 2002, Neurogenetics.

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression

L. Ozelius, J. Feng, Lin Wang, 2012, Journal of Neurology.

Dystonia: Myoclonus–Dystonia

C. Klein, L. Ozelius, 2009 .

Genetic heterogeneity in ten families with myoclonus-dystonia

L. Ozelius, V. Kostic, C. Klein, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.

M. Brin, S. Tabbal, S. Bressman, 2004, Molecular genetics and metabolism.

Co-factor insufficiency in Dystonia-Parkinsonian syndrome

X. Breakefield, L. Ozelius, 1994, Nature Genetics.

Rapid-onset dystonia-parkinsonism: More than just dystonia

A. Brashear, L. Ozelius, K. Sweadner, 2012 .

LRRK2 G2019S mutations may be increased in Puerto Ricans

S. Bressman, R. Saunders-Pullman, K. Stanley, 2011, Movement disorders : official journal of the Movement Disorder Society.

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

M. Ehrlich, S. Gandy, L. Ozelius, 2014, Acta Neuropathologica Communications.

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.

K. Stefánsson, J. Gusella, X. Breakefield, 1992, Human molecular genetics.

Fine mapping of the nail-patella syndrome locus at 9q34.

A. Schäffer, E. Puffenberger, D. Kwiatkowski, 1997, American journal of human genetics.

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).

J. Haines, M. Pericak-Vance, B. Korf, 1989, American journal of human genetics.

A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34.

D. Kwiatkowski, E. Henske, L. Ozelius, 1992, Genomics.

RFLP for human DBH (dopamine beta-hydroxylase).

X. Breakefield, C. Craft, J. Raese, 1990, Nucleic acids research.

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.

X. Breakefield, D. Kwiatkowski, L. Ozelius, 1989, Nucleic acids research.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

R. Artuch, J. Pascual, J. Campistol, 2014, Pediatric Neurology.

ATP1A3 mutations

A. Brashear, L. Ozelius, K. Sweadner, 2014, Neurology.

A syndrome of autosomal dominant alternating hemiplegia

S. Klauck, B. Korf, X. Breakefield, 1992, Neurology.

DYT-TUBB4A (DYT4 Dystonia)

A. Lang, Drew S. Kern, R. Yadav, 2020, Neurology.

DYT-TUBB4A (DYT4 Dystonia)

A. Lang, Drew S. Kern, R. Yadav, 2020, Neurology.

Norrie disease gene is distinct from the monoamine oxidase genes.

J. Haines, A. de la Chapelle, E. Sankila, 1989, American journal of human genetics.

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

R. Siebert, K. Lohmann, M. Talkowski, 2017, JAMA neurology.

DYT1 Early-Onset Primary Dystonia

N. Lubarr, L. Ozelius, 2014 .

Examination of the SGCE gene in Tourette syndrome patients with obsessive–compulsive disorder

J. Jankovic, M. Fazzari, L. Ozelius, 2004, Movement disorders : official journal of the Movement Disorder Society.

A Close Association of TorsinA and α-Synuclein in Lewy Bodies

B. Hyman, X. Breakefield, P. McLean, 2001 .

A 1-year, randomized, placebo-controlled study of donepezil in patients with mild to moderate AD. Authors' reply

K. Marder, A. Lang, Juliette M. Harris, 2002 .

Genetics of Primary Dystonia

X. Breakefield, L. Ozelius, C. Klein, 1999, Seminars in neurology.

MspI RFLP for human MAOA gene.

X. Breakefield, L. Ozelius, J. Gusella, 1989, Nucleic acids research.

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations

T. Kawarai, R. Kaji, Y. Ikeda, 2021, Neurology: Genetics.

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

A. Mirelman, Nir Giladi, S. Bressman, 2013, Neurology.

Neural correlates of abnormal sensory discrimination in laryngeal dystonia

Richard B. Reilly, Giovanni Battistella, Kristina Simonyan, 2015, NeuroImage: Clinical.

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

J. T. Penniston, K. Swoboda, A. Brashear, 2019, Neurology: Genetics.

ATP1A3-Related Neurologic Disorders

K. Swoboda, A. Brashear, L. Ozelius, 2014 .

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

A. Lang, X. Breakefield, P. Pramstaller, 2001, Human molecular genetics.

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus.

W. Heide, D. Kömpf, X. Breakefield, 1998, Genomics.

Construction of a GT polymorphism map of human 9q.

J. Haines, J. Gusella, D. Kwiatkowski, 1992, Genomics.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

J. Haines, J. Gusella, X. Breakefield, 1993, Nature Genetics.

Classification and genetics of dystonia

L. Ozelius, P. C. Aguiar, Laurie J Ozelius, 2002, The Lancet Neurology.

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

M. Okun, R. Uitti, S. Bressman, 2012, Neurology.

Responsiveness to levodopa in epsilon‐sarcoglycan deletions

M. S. Luciano, R. Saunders-Pullman, D. Raymond, 2009, Movement disorders : official journal of the Movement Disorder Society.

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.

P. S. St George-Hyslop, R. Martuza, J. Gusella, 1987, Science.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

Judy H. Cho, H. Ostrer, M. Daly, 2018, Science Translational Medicine.

The role of mitochondrial DNA in Huntington’s disease

Carol C. Irwin, J. Penney, A. Young, 2008, Journal of Molecular Neuroscience.

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

N. Risch, L. Almasy, X. Breakefield, 1995, Nature Genetics.

Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

J. Haines, C. Mathew, J. Halperin, 1988, Nature.

Juvenile rapid-onset dystonia parkinsonism due to a ‘de novo’ mutation in the ATP1A3 gene

B. Post, M. Tijssen, L. Ozelius, 2009, Journal of Pediatric Neurology.

Genetics in Dystonia: An Update

L. Ozelius, Tania Fuchs, 2013, Current Neurology and Neuroscience Reports.

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation

M. Ehrlich, T. Zwaka, F. Aguilo, 2017, Stem cell reports.

Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

R. Desnick, L. Mayer, D. Present, 2011, BMC Medical Genetics.

Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.

J. Haines, G. Bruns, J. Trofatter, 1988, Genomics.

Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.

X. Breakefield, C. Konradi, L. Ozelius, 1991, Nucleic acids research.

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

R. Blitzer, M. Ehrlich, T. Zwaka, 2018, PLoS genetics.

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

P. Hof, M. Ehrlich, P. Gonzalez-Alegre, 2015, Human molecular genetics.

Genetics of dystonia.

L. Ozelius, Tania Fuchs, 2011, Seminars in neurology.

Milestones in dystonia

S. Bressman, L. Ozelius, N. Lubarr, 2011, Movement disorders : official journal of the Movement Disorder Society.

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

S. Bressman, M. Ehrlich, R. Saunders-Pullman, 2009, Nature Genetics.

Supplemental Information THAP 1 : Role in Mouse Embryonic Stem Cell Survival and Differentiation

M. Ehrlich, T. Zwaka, F. Aguilo, 2017 .

Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity

Giovanni Battistella, Kristina Simonyan, Mert R Sabuncu, 2018, Cerebral cortex.

A genetic linkage map of chromosome 17.

J L Haines, J. Haines, J. Gusella, 1990, Genomics.

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes

J. Haines, J. Gusella, G. Vogler, 1988, Genetic epidemiology.

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

J. Noth, P. Weiss, A. Lang, 2004, Neurology.

Frequency of parkin mutations in late‐onset Parkinson's disease

K. Marder, A. Lang, Juliette M. Harris, 2003, Annals of neurology.

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

N. Risch, M. Brin, D. Corey, 1997, Nature Genetics.

Exclusion of familial dysautonomia from more than 60% of the genome.

J. Haines, X. Breakefield, S. Slaugenhaupt, 1993, Journal of medical genetics.

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.

M. Brin, R. Tanzi, X. Breakefield, 1986, Journal of neurogenetics.

TorsinA and DYT1 early-onset dystonia

X. Breakefield, C. Kamm, L. Ozelius, 2008 .

DYT1, An Inherited Dystonia

S. Bressman, L. Ozelius, 2007 .

Genetic Evaluation in Primary Dystonia

X. Breakefield, C. Klein, L. Ozelius, 2006 .

TorsinB – perinuclear location and association with torsinA

X. Breakefield, P. Hanson, R. Beauchamp, 2004, Journal of neurochemistry.

Chapter 36 – DYT1 Dystonia

L. Ozelius, 2003 .

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

I. König, K. Lohmann, C. Klein, 2021, Movement disorders : official journal of the Movement Disorder Society.

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Alexander Münchau, Christine Klein, William B Dobyns, 2007, Brain : a journal of neurology.

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

M. Pericak-Vance, M. Spence, R. Martuza, 1987, Cell.

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.

D. Corey, X. Breakefield, P. Hanson, 2006, Human molecular genetics.

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

X. Breakefield, C. Gonzalez-agosti, V. Ramesh, 2000, Human molecular genetics.

Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi‐point linkage analysis

K. Kidd, J. Gusella, X. Breakefield, 1987, Genetic epidemiology.

Mood and cognition in leucine‐rich repeat kinase 2 G2019S Parkinson's disease

R. Saunders-Pullman, G. Heiman, D. Raymond, 2011, Movement disorders : official journal of the Movement Disorder Society.

Expression of the early‐onset torsion dystonia gene (DYT1) in human brain

J. Penney, A. Young, S. Augood, 1998, Annals of neurology.

Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization

V. Dhawan, N. Brüggemann, M. Tagliati, 2010, Movement disorders : official journal of the Movement Disorder Society.

Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Christine Klein, Peter P. Pramstaller, Thomas Gasser, 2001, Neurogenetics.

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

Trisha J. Multhaupt-Buell, X. Breakefield, N. Ito, 2017, Proceedings of the National Academy of Sciences.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Christopher T. Whitlow, Allison Brashear, Thomas C. Markello, 2016, PloS one.

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

Christine Klein, Geetha Senthil, Michele Tagliati, 2006, The New England journal of medicine.

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.

J. Haines, M. Pericak-Vance, B. Korf, 1987, Genomics.

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

S Fahn, M. Brin, X. Breakefield, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat.

S. Augood, X. Breakefield, D. Standaert, 2002, Brain research. Molecular brain research.

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

W. Reik, M. Nitschke, P. Pramstaller, 2002, American journal of human genetics.

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

I. König, P. Bauer, N. Brüggemann, 2019, Annals of neurology.

Gender differences in the IL6 −174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease

R. Lipton, M. S. Luciano, S. Bressman, 2012, Neuroscience Letters.

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

N. Risch, M. Brin, X. Breakefield, 1998, Human molecular genetics.

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34

N. Risch, M. Brin, R. Burke, 1990, Annals of neurology.

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

K. Marder, A. Mirelman, Nir Giladi, 2015, Neurology.

Clinical-genetic spectrum of primary dystonia.

N. Risch, L. Almasy, X. Breakefield, 1998, Advances in neurology.

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

N Risch, R E Burke, N. Risch, 1992, American journal of human genetics.

Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.

P. Pramstaller, C. Klein, P. Kramer, 2002, American journal of human genetics.

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

M. Brin, X. Breakefield, S. Bressman, 1999, Genetic testing.

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

N. Risch, S. Bressman, L. Ozelius, 2004, Neurology.

Metabolic changes in DYT11 myoclonus-dystonia

V. Dhawan, D. Eidelberg, S. Bressman, 2013, Neurology.

A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome

L. Ozelius, H. Apaydin, S. Özekmekçi, 2012 .

Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus–dystonia syndrome

W. Grill, M. Stacy, A. M. Kuncel, 2009, Clinical Neurology and Neurosurgery.

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

F. Baas, R. D. de Haan, E. Foncke, 2006, Neurology.

Myoclonus–dystonia: Detection of novel, recurrent, and de novo SGCE mutations

Karl E. Wiegers, B. Landwehrmeyer, J. Koelman, 2004, Neurology.

Hereditary myoclonus–dystonia associated with epilepsy

E. Foncke, J. Koelman, M. Tijssen, 2003, Neurology.

Phenotypic features of myoclonus-dystonia in three kindreds

M. Brin, S. Bressman, M. Tijssen, 2002, Neurology.

Dystonia: clinical features, genetics, and treatment

Christine Klein, C. Klein, L. Ozelius, 2002, Current opinion in neurology.

Human gene for torsion dystonia located on chromosome 9q32-q34

Stanley Fahn, Robert E. Burke, Patricia L. Kramer, 1989, Neuron.

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

N. Brüggemann, S. Bressman, R. Saunders-Pullman, 2011, Movement disorders : official journal of the Movement Disorder Society.

Isolated dystonia: clinical and genetic updates

L. Ozelius, A. Domingo, Rachita Yadav, 2020, Journal of Neural Transmission.

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

Joseph E. Rittiner, K. Simonyan, M. Stacy, 2016, Neuron.

Pallidal deep brain stimulation for DYT6 dystonia

R. Alterman, D. Weisz, M. Tagliati, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Screening study of TUBB4A in isolated dystonia.

K. Simonyan, N. Brüggemann, K. Lohmann, 2017, Parkinsonism & related disorders.

Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation

D. Arkadir, S. Bressman, D. Raymond, 2020, Movement disorders clinical practice.

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism

Trisha J. Multhaupt-Buell, S. Arnold, X. Breakefield, 2020, Movement disorders : official journal of the Movement Disorder Society.

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family

C. Klein, P. Kramer, L. Ozelius, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Rapid‐onset dystonia‐parkinsonism

X. Breakefield, M. Farlow, W. Dobyns, 1993, Neurology.

Application of the Movement Disorder Society prodromal criteria in healthy G2019S‐LRRK2 carriers

K. Marder, A. Mirelman, Nir Giladi, 2018, Movement disorders : official journal of the Movement Disorder Society.

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