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"); document.write("
Kafantari,\ E.*\ ; Hernandez,\ V.J.*\ ; Necpál,\ J.*\ ; Leonidou,\ M.*\ ; Baureder,\ R.*\ ; Hedberg-Oldfors,\ C.*\ ; Jech,\ R.*\ ; Zech,\ M.\ ; Schwartz,\ T.U.*\ ; Puschmann,\ A.*
"); document.write("
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.
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Parkinsonism Relat. Disord. 134:107781 (2025)
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Krygier,\ M.*\ ; Limanówka,\ M.*\ ; Pietruszka,\ M.*\ ; Chylińska,\ M.*\ ; Mazurkiewicz-Bełdzińska,\ M.*\ ; Zech,\ M.
"); document.write("
\TAOK1\-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor!
"); document.write("
Parkinsonism Relat. Disord. 133:107323 (2025)
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Quazza,\ F.*\ ; Riant,\ F.*\ ; Patera,\ M.*\ ; Suppa,\ A.*\ ; Satolli,\ S.*\ ; Burglen,\ L.*\ ; Zech,\ M.\ ; Boesch,\ S.*\ ; Indelicato,\ E.*\ ; Hainque,\ E.*\ ; Apartis,\ E.*\ ; Rodriguez,\ D.*\ ; Doummar,\ D.*\ ; Méneret,\ A.*\ ; Ravelli,\ C.*
"); document.write("
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
"); document.write("
Parkinsonism Relat. Disord. 132:107274 (2025)
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"); document.write("
"); document.write("
Saparov,\ A.\ ; Zech,\ M.
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Big data and transformative bioinformatics in genomic diagnostics and beyond.
"); document.write("
Parkinsonism Relat. Disord. 134:107311 (2025)
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"); document.write("
"); document.write("
Stehr,\ A.M.*\ ; Fischer,\ J.*\ ; Mirza-Schreiber,\ N.\ ; Bernardi,\ K.*\ ; Porrmann,\ J.*\ ; Harrer,\ P.\ ; Kaiser,\ F.*\ ; Jamra,\ R.A.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*\ ; Koy,\ A.*\ ; Oexle,\ K.\ ; Zech,\ M.
"); document.write("
Variable expressivity of \KMT2B\ variants at codon 2565 in patients with dystonia and developmental disorders.
"); document.write("
Parkinsonism Relat. Disord. 133:107319 (2025)
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"); document.write("
"); document.write("
Stehr,\ A.M.*\ ; Fischer,\ J.*\ ; Mirza-Schreiber,\ N.\ ; Bernardi,\ K.*\ ; Porrmann,\ J.*\ ; Harrer,\ P.\ ; Kaiser,\ F.*\ ; Jamra,\ R.A.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*\ ; Koy,\ A.*\ ; Oexle,\ K.\ ; Zech,\ M.
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Corrigendum to \"Variable expressivity of \KMT2B\ variants at codon 2565 in patients with dystonia and developmental disorders\" [Parkinson. Relat. Disord. (2025) 133 107319].
"); document.write("
Parkinsonism Relat. Disord. 134:107795 (2025)
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"); document.write("
"); document.write("
Stretavská,\ P.*\ ; Necpál,\ J.*\ ; Trúsiková,\ E.*\ ; Okáľová,\ K.*\ ; Latka,\ S.*\ ; Jech,\ R.*\ ; Zech,\ M.
"); document.write("
Paroxysmal nocturnal dystonia in DNM1L-related syndrome.
"); document.write("
Parkinsonism Relat. Disord. 133:107351 (2025)
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"); document.write("
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Blaschek,\ A.*\ ; Sitzberger,\ A.*\ ; Brugger,\ M.*\ ; Graf,\ E.*\ ; Berutti,\ R.\ ; Zech,\ M.\ ; Vill,\ K.
"); document.write("
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?
"); document.write("
Parkinsonism Relat. Disord. 109:105320 (2023)
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"); document.write("
Indelicato,\ E.\ ; Boesch,\ S.*\ ; Havránková,\ P.*\ ; Příhodová,\ I.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*\ ; Zech,\ M.
"); document.write("
SOXopathies and dystonia: Consolidation of a recurrent association.
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Parkinsonism Relat. Disord. 119:105960 (2023)
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"); document.write("
Necpál,\ J.*\ ; Winkelmann,\ J.\ ; Zech,\ M.\ ; Jech,\ R.*
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A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
"); document.write("
Parkinsonism Relat. Disord. 111:105437 (2023)
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"); document.write("
Pavelekova,\ P.*\ ; Necpál,\ J.*\ ; Jech,\ R.*\ ; Havránková,\ P.*\ ; Švantnerová,\ J.*\ ; Jurkova,\ V.*\ ; Gdovinova,\ Z.*\ ; Lackova,\ A.*\ ; Han,\ V.*\ ; Winkelmann,\ J.\ ; Zech,\ M.\ ; Škorvánek,\ M.*
"); document.write("
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.
"); document.write("
Parkinsonism Relat. Disord. 111:105352 (2023)
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"); document.write("
Doppler,\ K.*\ ; Mammadova,\ S.*\ ; Kuzkina,\ A.*\ ; Reetz,\ K.*\ ; Michels,\ J.*\ ; Hermann,\ W.*\ ; Sommerauer,\ M.*\ ; Volkmann,\ J.*\ ; Oertel,\ W.H.\ ; Janzen,\ A.*\ ; Sommer,\ C.*
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Association between probable REM sleep behavior disorder and increased dermal alpha-synuclein deposition in Parkinson\'s disease.
"); document.write("
Parkinsonism Relat. Disord. 99, 58-61 (2022)
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"); document.write("
"); document.write("
Dzinovic,\ I.\ ; Boesch,\ S.*\ ; Škorvánek,\ M.*\ ; Necpál,\ J.*\ ; Švantnerová,\ J.*\ ; Pavelekova,\ P.*\ ; Havránková,\ P.*\ ; Tsoma,\ E.*\ ; Indelicato,\ E.*\ ; Runkel,\ E.*\ ; Held,\ V.*\ ; Weise,\ D.*\ ; Janzarik,\ W.G.*\ ; Eckenweiler,\ M.*\ ; Berweck,\ S.*\ ; Mall,\ V.*\ ; Haslinger,\ B.*\ ; Jech,\ R.*\ ; Winkelmann,\ J.\ ; Zech,\ M.
"); document.write("
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
"); document.write("
Parkinsonism Relat. Disord. 102, 1-6 (2022)
"); document.write("
"); document.write("
"); document.write("
Dzinovic,\ I.\ ; Winkelmann,\ J.\ ; Zech,\ M.
"); document.write("
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
"); document.write("
Parkinsonism Relat. Disord. 102, 131-140 (2022)
"); document.write("
"); document.write("
"); document.write("
Garavaglia,\ B.*\ ; Vallian,\ S.*\ ; Romito,\ L.M.*\ ; Straccia,\ G.*\ ; Capecci,\ M.*\ ; Invernizzi,\ F.*\ ; Andrenelli,\ E.*\ ; Kazemi,\ A.*\ ; Boesch,\ S.*\ ; Kopajtich,\ R.\ ; Olfati,\ N.*\ ; Shariati,\ M.*\ ; Shoeibi,\ A.*\ ; Sadr-Nabavi,\ A.*\ ; Prokisch,\ H.\ ; Winkelmann,\ J.\ ; Zech,\ M.
"); document.write("
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
"); document.write("
Parkinsonism Relat. Disord. 97, 52-56 (2022)
"); document.write("
"); document.write("
"); document.write("
Škorvánek,\ M.*\ ; Rektorová,\ I.*\ ; Mandemakers,\ W.*\ ; Wagner,\ M.\ ; Steinfeld,\ R.*\ ; Orec,\ L.*\ ; Han,\ V.*\ ; Pavelekova,\ P.*\ ; Lackova,\ A.*\ ; Kulcsarová,\ K.*\ ; Ostrozovičová,\ M.*\ ; Gdovinova,\ Z.*\ ; Plecko,\ B.*\ ; Brunet,\ T.*\ ; Berutti,\ R.\ ; Kuipers,\ D.J.S.*\ ; Boumeester,\ V.*\ ; Havránková,\ P.*\ ; Tijssen,\ M.A.J.*\ ; Kaiyrzhanov,\ R.*\ ; Rizig,\ M.*\ ; Houlden,\ H.*\ ; Winkelmann,\ J.*\ ; Bonifati,\ V.*\ ; Zech,\ M.\ ; Jech,\ R.*
"); document.write("
\WARS2\ mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
"); document.write("
Parkinsonism Relat. Disord. 94, 54-61 (2022)
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"); document.write("
"); document.write("
Straccia,\ G.*\ ; Reale,\ C.*\ ; Castellani,\ M.*\ ; Colangelo,\ I.*\ ; Orunesu,\ E.*\ ; Meoni,\ S.*\ ; Moro,\ E.*\ ; Krack,\ P.*\ ; Prokisch,\ H.\ ; Zech,\ M.\ ; Romito,\ L.M.*\ ; Garavaglia,\ B.*
"); document.write("
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
"); document.write("
Parkinsonism Relat. Disord. 104, 3-6 (2022)
"); document.write("
"); document.write("
"); document.write("
Svorenova,\ T.*\ ; Romito,\ L.M.*\ ; Colangelo,\ I.*\ ; Han,\ V.*\ ; Jech,\ R.*\ ; Prokisch,\ H.\ ; Škorvánek,\ M.*\ ; Garavaglia,\ B.*\ ; Zech,\ M.
"); document.write("
Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype.
"); document.write("
Parkinsonism Relat. Disord. 102, 89-91 (2022)
"); document.write("
"); document.write("
"); document.write("
Amprosi,\ M.*\ ; Zech,\ M.\ ; Lichtner,\ P.\ ; Eckstein,\ G.N.\ ; Unterberger,\ I.*\ ; Eigentler,\ A.*\ ; Indelicato,\ E.*\ ; Puttinger,\ G.*\ ; Nachbauer,\ W.*\ ; Boesch,\ S.*
"); document.write("
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
"); document.write("
Parkinsonism Relat. Disord. 87, 119-121 (2021)
"); document.write("
"); document.write("
"); document.write("
Doppler,\ K.*\ ; Antelmi,\ E.*\ ; Kuzkina,\ A.*\ ; Donadio,\ V.*\ ; Incensi,\ A.*\ ; Plazzi,\ G.*\ ; Pizza,\ F.*\ ; Marelli,\ S.*\ ; Ferini-Strambi,\ L.*\ ; Tinazzi,\ M.*\ ; Mayer,\ G.*\ ; Sittig,\ E.*\ ; Booij,\ J.*\ ; Sedghi,\ A.*\ ; Oertel,\ W.H.\ ; Volkmann,\ J.*\ ; Sommer,\ C.*\ ; Janzen,\ A.*\ ; Liguori,\ R.*
"); document.write("
Consistent skin alpha-synuclein positivity in REM sleep behavior disorder-A two center two-to-four-year follow-up study.
"); document.write("
Parkinsonism Relat. Disord. 86, 108-113 (2021)
"); document.write("
"); document.write("
"); document.write("
Dzinovic,\ I.\ ; Škorvánek,\ M.*\ ; Necpál,\ J.*\ ; Boesch,\ S.*\ ; Švantnerová,\ J.*\ ; Wagner,\ M.\ ; Havránková,\ P.*\ ; Pavelekova,\ P.*\ ; Han,\ V.*\ ; Janzarik,\ W.G.*\ ; Berweck,\ S.*\ ; Diebold,\ I.*\ ; Kuster,\ A.*\ ; Jech,\ R.*\ ; Winkelmann,\ J.\ ; Zech,\ M.
"); document.write("
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
"); document.write("
Parkinsonism Relat. Disord. 90, 73-78 (2021)
"); document.write("
"); document.write("
"); document.write("
Pavelekova,\ P.*\ ; Jech,\ R.*\ ; Zech,\ M.\ ; Krepelova,\ A.*\ ; Han,\ V.*\ ; Mosejova,\ A.*\ ; Liba,\ Z.*\ ; Urgošík,\ D.*\ ; Gdovinova,\ Z.*\ ; Havránková,\ P.*\ ; Fečíková,\ A.*\ ; Winkelmann,\ J.\ ; Škorvánek,\ M.*
"); document.write("
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
"); document.write("
Parkinsonism Relat. Disord. 83, 54-55 (2021)
"); document.write("
"); document.write("
"); document.write("
Zech,\ M.\ ; Boesch,\ S.*\ ; Škorvánek,\ M.*\ ; Necpál,\ J.*\ ; Švantnerová,\ J.*\ ; Wagner,\ M.\ ; Dincer,\ Y.*\ ; Sadr-Nabavi,\ A.*\ ; Serranová,\ T.*\ ; Rektorová,\ I.*\ ; Havránková,\ P.*\ ; Ganai,\ S.*\ ; Mosejová,\ A.*\ ; Příhodová,\ I.*\ ; Šarláková,\ J.*\ ; Kulcsarová,\ K.*\ ; Ulmanová,\ O.*\ ; Bechyně,\ K.*\ ; Ostrozovičová,\ M.*\ ; Haň,\ V.*\ ; Ventosa,\ J.R.*\ ; Shariati,\ M.*\ ; Shoeibi,\ A.*\ ; Weber,\ S.\ ; Mollenhauer,\ B.*\ ; Trenkwalder,\ C.*\ ; Berutti,\ R.\ ; Strom,\ T.M.*\ ; Ceballos-Baumann,\ A.*\ ; Mall,\ V.*\ ; Haslinger,\ B.*\ ; Jech,\ R.*\ ; Winkelmann,\ J.
"); document.write("
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
"); document.write("
Parkinsonism Relat. Disord. 84, 129-134 (2021)
"); document.write("
"); document.write("
"); document.write("
Hopfner,\ F.*\ ; Mueller,\ S.H.*\ ; Szymczak,\ S.*\ ; Junge,\ O.*\ ; Tittmann,\ L.*\ ; May,\ S.*\ ; Lohmann,\ K.*\ ; Grallert,\ H.\ ; Lieb,\ W.*\ ; Strauch,\ K.\ ; Müller-Nurasyid,\ M.\ ; Berger,\ K.*\ ; Schormair,\ B.\ ; Winkelmann,\ J.\ ; Mollenhauer,\ B.*\ ; Trenkwalder,\ C.*\ ; Maetzler,\ W.*\ ; Berg,\ D.*\ ; Kasten,\ M.*\ ; Klein,\ C.*\ ; Höglinger,\ G.U.*\ ; Gasser,\ T.*\ ; Deuschl,\ G.*\ ; Franke,\ A.*\ ; Krawczak,\ M.*\ ; Dempfle,\ A.*\ ; Kuhlenbäumer,\ G.*
"); document.write("
Private variants in PRKN are associated with late-onset Parkinson\'s disease.
"); document.write("
Parkinsonism Relat. Disord. 75, 24-26 (2020)
"); document.write("
"); document.write("
"); document.write("
Necpál,\ J.*\ ; Zech,\ M.\ ; Valachová,\ A.*\ ; Sedláček,\ Z.*\ ; Bendová,\ Š.*\ ; Hančárová,\ M.*\ ; Okáľová,\ K.*\ ; Winkelmann,\ J.\ ; Jech,\ R.*
"); document.write("
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
"); document.write("
Parkinsonism Relat. Disord. 77, 87-88 (2020)
"); document.write("
"); document.write("
"); document.write("
Zech,\ M.\ ; Brunet,\ T.*\ ; Škorvánek,\ M.*\ ; Blaschek,\ A.*\ ; Vill,\ K.*\ ; Hanker,\ B.*\ ; Hüning,\ I.*\ ; Haň,\ V.*\ ; Došekova,\ P.*\ ; Gdovinová,\ Z.*\ ; Alhaddad,\ B.*\ ; Berutti,\ R.\ ; Strom,\ T.M.*\ ; Růžička,\ E.*\ ; Kamsteeg,\ E.J.*\ ; van der Smagt,\ J.J.*\ ; Wagner,\ M.\ ; Jech,\ R.*\ ; Winkelmann,\ J.
"); document.write("
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
"); document.write("
Parkinsonism Relat. Disord. 77, 70-75 (2020)
"); document.write("
"); document.write("
"); document.write("
Becker,\ A.*\ ; Faßbender,\ K.*\ ; Oertel,\ W.H.\ ; Unger,\ M.M.*
"); document.write("
A punch in the gut - Intestinal inflammation links environmental factors to neurodegeneration in Parkinson\'s disease.
"); document.write("
Parkinsonism Relat. Disord. 60, 43-45 (2019)
"); document.write("
"); document.write("
"); document.write("
Chou,\ K.L.*\ ; Stacy,\ M.*\ ; Simuni,\ T.*\ ; Miyasaki,\ J.*\ ; Oertel,\ W.H.\ ; Sethi,\ K.*\ ; Fernandez,\ H.H.*\ ; Stocchi,\ F.*
"); document.write("
The spectrum of \"off\" in Parkinson\'s disease: What have we learned over 40 years?
"); document.write("
Parkinsonism Relat. Disord. 51, 9-16 (2018)
"); document.write("
"); document.write("
"); document.write("
Jochim,\ A.*\ ; Li,\ Y.*\ ; Zech,\ M.\ ; Lam,\ D.D.\ ; Gross,\ N.*\ ; Koch,\ K.W.*\ ; Zimmer,\ C.*\ ; Winkelmann,\ J.\ ; Haslinger,\ B.*
"); document.write("
Microstructural white matter abnormalities in patients with \COL6A3\ mutations (DYT27 dystonia).
"); document.write("
Parkinsonism Relat. Disord. 46, 74-78 (2018)
"); document.write("
"); document.write("
"); document.write("
Ouled Amar Bencheikh,\ B.*\ ; Ruskey,\ J.A.*\ ; Arnulf,\ I.*\ ; Dauvilliers,\ Y.*\ ; Monaca,\ C.C.*\ ; De Cock,\ V.C.*\ ; Gagnon,\ J.F.*\ ; Spiegelman,\ D.*\ ; Hu,\ M.T.M.*\ ; Högl,\ B.*\ ; Stefani,\ A.*\ ; Ferini-Strambi,\ L.*\ ; Plazzi,\ G.*\ ; Antelmi,\ E.*\ ; Young,\ P.*\ ; Heidbreder,\ A.*\ ; Mollenhauer,\ B.*\ ; Sixel-Döring,\ F.*\ ; Trenkwalder,\ C.*\ ; Oertel,\ W.H.\ ; Montplaisir,\ J.Y.*\ ; Postuma,\ R.B.*\ ; Rouleau,\ G.A.*\ ; Gan-Or,\ Z.*
"); document.write("
LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
"); document.write("
Parkinsonism Relat. Disord. 52, 98-101 (2018)
"); document.write("
"); document.write("
"); document.write("
Aridon,\ P.*\ ; De Fusco,\ M.*\ ; Winkelmann,\ J.\ ; Zucconi,\ M.*\ ; Arnao,\ V.*\ ; Ferini-Strambi,\ L.*\ ; Casari,\ G.*
"); document.write("
A \TRAPPC6B\ splicing variant associates to restless legs syndrome.
"); document.write("
Parkinsonism Relat. Disord. 31, 135-138 (2016)
"); document.write("
"); document.write("
"); document.write("
Zech,\ M.\ ; Jochim,\ A.*\ ; Boesch,\ S.*\ ; Weber,\ S.\ ; Meindl,\ T.*\ ; Peters,\ A.\ ; Gieger,\ C.\ ; Mueller,\ J.C.*\ ; Messner,\ M.*\ ; Ceballos-Baumann,\ A.*\ ; Poewe,\ W.*\ ; Haslinger,\ B.*\ ; Winkelmann,\ J.
"); document.write("
Systematic \TOR1A\ non-c.907_909delGAG variant analysis in isolated dystonia and controls.
"); document.write("
Parkinsonism Relat. Disord. 31, 119-123 (2016)
"); document.write("
"); document.write("
"); document.write("
Zech,\ M.\ ; Boesch,\ S.*\ ; Jochim,\ A.*\ ; Graf,\ S.*\ ; Lichtner,\ P.\ ; Peters,\ A.\ ; Gieger,\ C.\ ; Müller,\ J.*\ ; Poewe,\ W.*\ ; Haslinger,\ B.*\ ; Winkelmann,\ J.
"); document.write("
Large-scale \TUBB4A\ mutational screening in isolated dystonia and controls.
"); document.write("
Parkinsonism Relat. Disord. 21, 1278-1281 (2015)
"); document.write("
"); document.write("
"); document.write("
Kaffe,\ M.\ ; Gross,\ N.*\ ; Castrop,\ F.*\ ; Dresel,\ C.*\ ; Gieger,\ C.\ ; Lichtner,\ P.\ ; Haslinger,\ B.*\ ; Winkelmann,\ J.
"); document.write("
Mutational screening of \THAP1\ in a German population with primary dystonia.
"); document.write("
Parkinsonism Relat. Disord. 18, 104-106 (2012)
"); document.write("
"); document.write("
"); document.write("
*\ ; Schulte,\ C.*\ ; Reinthaler,\ E.*\ ; Haubenberger,\ D.*\ ; Balzar,\ J.*\ ; Lichtner,\ P.\ ; El Tawil,\ S.*\ ; Edrise,\ S.*\ ; Foki,\ T.*\ ; Pirker,\ W.*\ ; Katzenschlager,\ R.*\ ; Daniel,\ G.*\ ; Brücke,\ T.*\ ; Auff,\ E.*\ ; Gasser,\ T.*
"); document.write("
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson\'s disease.
"); document.write("
Parkinsonism Relat. Disord. 15, 532-534 (2009)
"); document.write("
"); document.write("
"); document.write("
Storch,\ A.*\ ; Trenkwalder,\ C.*\ ; Oehlwein,\ C.*\ ; Winkelmann,\ J.*\ ; Polzer,\ U.*\ ; Hundemer,\ H.P.*\ ; Schwarz,\ J.*
"); document.write("
High-dose treatment with pergolide in Parkinson\'s disease patients with motor fluctuations and dyskinesias.
"); document.write("
Parkinsonism Relat. Disord. 11, 393-398 (2005)
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");