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Medical NeuroScience Cluster Publications by Zimprich, Alexander, Assoc.Prof.Priv.-Doz.Dr.

2021 Original Articles

  • Rath J, Schober B, Zulehner G, Grisold A, Krenn M, Cetin H, Zimprich F (2021) Nerve conduction studies in Guillain-Barré syndrome: Influence of timing and value of repeated measurements J Neurol Sci, 420: 117267
  • Rath J, Zulehner G, Schober B, Grisold A, Krenn M, Cetin H, Zimprich F (2021) Cerebrospinal fluid analysis in Guillain–Barré syndrome: value of albumin quotients J Neurol,

2020 Original Articles

  • Macher S, Zrzavy T, Höftberger R, Altmann P, Pataraia E, Zimprich F, Berger T, Rommer P (2020) Longitudinal measurement of cerebrospinal fluid neurofilament light in anti‐N‐methyl‐D‐aspartate receptor encephalitis Eur J Neurol, 28 (4): 1401-1405
  • Tomschik M, Hilger E, Rath J, Mayer E, Fahrner M, Cetin H, Löscher W, Zimprich F (2020) Subgroup stratification and outcome in recently diagnosed generalized myasthenia gravis Neurology, 95 (10): e1426-e1436
  • Cetin H, Sun J, Almqvist C, Reichardt B, Tomschik M, Zimprich F, Fang F, Ingre C (2020) No association between proton pump inhibitor use and ALS risk: a nationwide nested case–control study Sci Rep, 10 (1)
  • Cetin H, Webster R, Liu W, Nagaishi A, Koneczny I, Zimprich F, Maxwell S, Cossins J, Beeson D, Vincent A (2020) Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs J Neurol Neurosurg Psychiatry, 91 (5): 526-532
  • Weidenauer A, Bauer M, Sauerzopf U, Bartova L, Nics L, Pfaff S, Philippe C, Berroterán-Infante N, Pichler V, Meyer B, Rabl U, Sezen P, Cumming P, Stimpfl T, Sitte H, Lanzenberger R, Mossaheb N, Zimprich A, Rusjan P, Dorffner G, Mitterhauser M, Hacker M, Pezawas L, Kasper S, Wadsak W, Praschak-Rieder N, Willeit M (2020) On the relationship of first-episode psychosis to the amphetamine-sensitized state: a dopamine D2/3 receptor agonist radioligand study Transl Psychiat, 10 (2): 2
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  • Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom T, Meitinger T, Zimprich F (2020) Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes J Med Genet, 57 (9): 624-633
  • Greisenegger E, Llufriu S, Chamorro A, Cervera A, Jimenez-Escrig A, Rappersberger K, Marik W, Greisenegger S, Stögmann E, Kopp T, Strom T, Henes J, Joutel A, Zimprich A (2020) A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke J Neurol,
  • Klotz S, König T, Erdler M, Ulram A, Nguyen A, Ströbel T, Zimprich A, Stögmann E, Regelsberger G, Höftberger R, Budka H, Kovacs G, Gelpi E (2020) Co‐incidental C9orf72 expansion mutation‐related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt−Jakob disease Eur J Neurol,
  • Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom T, Meitinger T, Zimprich F (2020) Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes J Med Genet, 57 (9): 624-633

2019 Original Articles

  • Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt J, Traboulsee A, Encarnacion M, Bernales C, Follett J, Yee I, Criscuoli M, Deutschländer A, Reinthaler E, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick A (2019) Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease PLOS Genet, 15 (6): e1008180
  • Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom T, Meitinger T, Wagner M, Zimprich F (2019) Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach Eur J Neurol, 27 (1): 51-61

2018 Original Articles

  • Löscher W, Oberreiter E, Erdler M, Quasthoff S, Culea V, Berek K, Embacher N, Grinzinger S, Hess I, Höger F, Horlings C, Huemer M, Jecel J, Kleindienst W, Laich E, Müller P, Oel D, Örtl W, Lenzenweger E, Rath J, Stadler K, Stieglbauer K, Thaler-Wolf C, Wanschitz J, Zimprich F, Cetin H, Topakian R (2018) Multifocal motor neuropathy in Austria: a nationwide survey of clinical features and response to treatment J Neurol, 265 (12): 2834-2840
  • Reinthaler E, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill C, Hoffjan S, Epplen J, Zettl U, Hecker M, Deutschländer A, Meuth S, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick A, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A (2018) TPP2 mutation associated with sterile brain inflammation mimicking MS Neurol Genet, 4 (6): e285
  • Zrzavy T, Kovacs-Nagy R, Reinthaler E, Deutschländer A, Schmied C, Kornek B, Leutmezer F, Zimprich A (2018) A rare P2RX7 variant in a Hungarian family with Multiple Sclerosis Mult Scler Relat Disord.,

2017 Original Articles

  • Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack T, Strom T, Zimprich A, Zimprich F (2017) Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene Eur J Neurol, 24 (5): 741-747

2016 Original Articles

  • Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky CM, Schmied C, Leutmezer FH, Keilani MY, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschlaender A, Ahram M, Mustafa B, El-Khateeb M, Vilarino-Guell C, Sadovnick DA, Zimprich F, Tomkinson B, Strom TM, Kristoferitsch W, Lassmann H, Zimprich A (2016) Mutations in the gene tripeptidyl peptidase II (TPP2) and multiple sclerosis Mult Scler, 22: 849
  • Sadovnick A, Traboulsee A, Bernales C, Ross J, Forwell A, Yee I, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad D, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen J, Gerdes L, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl U, Zipp F, Bertram L, Lill C, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño J, Arroyo R, Garagorri A, García-Martínez A, Villar L, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied M, Zimprich A, Vilariño-Güell C (2016) Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients G3 (Bethesda), 6 (7): 2073-2079
  • Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A (2016) The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA Clin Genet, 90 (4): 366-371
  • Sadovnick A, Traboulsee A, Bernales C, Ross J, Forwell A, Yee I, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antiguedad A, Vandenbroeck K, Akkad D, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen J, Gerdes L, Kroner A, Kubisch C, Kumpfel T, Lohse P, Rieckmann P, Zettl U, Zipp F, Bertram L, Lill C, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeno J, Arroyo R, Garagorri A, Garcia-Martinez A, Villar L, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied M, Zimprich A, Vilarino-Guell C (2016) Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients G3, 6 (7): 2073-2079

2015 Original Articles

  • Schulte E, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar M, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar H, Trenkwalder C, Haass C, Winkelmann J (2015) Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease Eur J Hum Genet, 23 (10): 1328-1333

2014 Original Articles

  • Struhal W, Presslauer S, Spielberger S, Zimprich A, Auff E, Bruecke T, Poewe W, Ransmayr G (2014) VPS35 Parkinson’s disease phenotype resembles the sporadic disease J Neural Transm, 121 (7): 755-759
  • Schulte E, Schramm K, Schurmann C, Lichtner P, Herder C, Roden M, Gieger C, Peters A, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Gross N, Stiasny-Kolster K, Oertel W, Bachmann C, Paulus W, Zimprich A, Völzke H, Schminke U, Nauck M, Illig T, Meitinger T, Müller-Myhsok B, Prokisch H, Winkelmann J (2014) Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome PLoS One, 9 (5): e98092
  • Schulte E, Kousi M, Tan P, Tilch E, Knauf F, Lichtner P, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Hornyak M, Oertel W, Bachmann C, Zimprich A, Peters A, Gieger C, Meitinger T, Müller-Myhsok B, Katsanis N, Winkelmann J (2014) Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome Am J Hum Genet, 95 (1): 85-95
  • Votinov M, Pripfl J, Windischberger C, Kalcher K, Zimprich A, Zimprich F, Moser E, Lamm C, Sailer U (2014) A Genetic Polymorphism of the Endogenous Opioid Dynorphin Modulates Monetary Reward Anticipation in the Corticostriatal Loop PLoS One, 9 (2): e89954

2013 Original Articles

  • Greisenegger E, Zimprich A, Strom T, Kopp T (2013) Identification of a possible risk gene in Sneddon Syndrome J Invest Dermatol, 1133: S144
  • Greisenegger EK, Zimprich F, Zimprich A, Gleiss A, Kopp T (2013) Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients Eur J Dermatol, 23(2): 142-145
  • Hopfner F, Schulte E, Mollenhauer B, Bereznai B, Knauf F, Lichtner P, Zimprich A, Haubenberger D, Pirker W, Brücke T, Peters A, Gieger C, Kuhlenbäumer G, Trenkwalder C, Winkelmann J (2013) The role of SCARB2 as susceptibility factor in Parkinson's disease Movement Disorders, 28 (4): 538-540
  • Reinthaler E, Machetanz G, Hotzy C, Reindl M, Fazekas F, Kristoferitsch W, Berger T, Schmied C, Zimprich A (2013) No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients Mult Scler, 20 (3): 391-392
  • Schulte E, Ellwanger D, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes H, Meitinger T, Lewis P, Klünemann H, Winkelmann J (2013) Rare variants in LRRK1 and Parkinson's disease Neurogenetics, 15 (1): 49-57
  • Schulte E, Stahl I, Czamara D, Ellwanger D, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar M, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J (2013) Rare Variants in PLXNA4 and Parkinson’s Disease PLoS One, 8 (11): e79145
  • Stogmann E, Zimprich A, Zimprich F (2013) Reply: Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy Brain, 136 (10): e254-e254
  • Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis S, Estivill X, Glavač D, Gut I, Klovins J, Kraw (2013) Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Eur J Hum Genet, 21 (6): 659-665
  • Stogmann E, Reinthaler E, ElTawil S, El Etribi M, Hemeda M, El Nahhas N, Gaber A, Fouad A, Edris S, Benet-Pages A, Eck S, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom T, Zimprich A (2013) Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2 Brain, 136 (4): 1155-1160

2012 Original Articles

  • Schmied M, Zehetmayer S, Reindl M, Ehling R, Bajer-Kornek B, Leutmezer F, Zebenholzer K, Hotzy C, Lichtner P, Meitinger T, Wichmann H, Illig T, Gieger C, Huber K, Khalil M, Fuchs S, Schmidt H, Auff E, Kristoferitsch W, Fazekas F, Berger T, Vass K, Zimprich A (2012) Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients Neurogenetics, 13 (2): 181-187
  • Zimprich A (2012) Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers Parkinsonism & Related Disorders, 18 (6): 711-716
  • Schulte E, Mollenhauer B, Zimprich A, Bereznai B, Lichtner P, Haubenberger D, Pirker W, Brücke T, Molnar M, Peters A, Gieger C, Trenkwalder C, Winkelmann J (2012) Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease Neurogenetics, 13 (3): 281-285
  • Hilger E, Reinthaler E, Stogmann E, Hotzy C, Pataraia E, Baumgartner C, Zimprich A, Zimprich F (2012) Lack of association between ABCC2 gene variants and treatment response in epilepsy Pharmacogenomics, 13 (2): 185-190

2011 Original Articles

  • Haubenberger D, Reinthaler E, Mueller J, Pirker W, Katzenschlager R, Froehlich R, Bruecke T, Daniel G, Auff E, Zimprich A (2011) Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease Neurobiol Aging, 32 (2): 302-307
  • Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte E, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann C, Paulus W, Xiong L, Montplaisir J, Rouleau G, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin S, Wszolek Z, Vilariño-Güell C, Farrer M, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen R, Earley C, Ondo W, Le W, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann H, Müller-Myhsok B, Meitinger T (2011) Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 PLoS Genet, 7 (8)
  • Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck S, Offman M, Haubenberger D, Spielberger S, Schulte E, Lichtner P, Rossle S, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom T (2011) A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease Am J Hum Genet, 89 (1): 168-175

2011 Reviews

  • Zimprich A (2011) Genetics of Parkinsonʼs disease and essential tremor Curr Opin Neurol, 24 (4): 318-323

2010 Original Articles

  • Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A (2010) Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis J Eur Acad Dermatol Venereol, 24 (5): 607-610
  • Jamali S, Salzmann A, Perroud N, Ponsole-Lenfant M, Cillario J, Roll P, Roeckel-Trevisiol N, Crespel A, Balzar J, Schlachter K, Gruber-Sedlmayr U, Pataraia E, Baumgartner C, Zimprich A, Zimprich F, Malafosse A, Szepetowski P (2010) Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile Seizures PLoS One, 5 (9): e12740

2009 Original Articles

  • Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir I, Jonsdottir G, Palsson S, Jonsson T, Saemundsdottir J, Bjornsdottir G, Böttcher Y, Thorlacius T, Haubenberger D, Zimprich A, Auff E, Hotzy C, Testa C, Miyatake L, Rosen A, Kristleifsson K, Rye D, Asmus F, Schöls L, Dichgans M, Jakobsson F, Benedikz J, Thorsteinsdottir U, Gulcher J, Kong A, Stefansson K (2009) Variant in the sequence of the LINGO1 gene confers risk of essential tremor Nat Genet, 41 (3): 277-279
  • Djamshidian A, Schaefer J, Haubenberger D, Stogmann E, Zimprich F, Auff E, Zimprich A (2009) A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia Muscle Nerve, 39 (3): 389-391
  • Kemlink D, Polo O, Frauscher B, Gschliesser V, Hogl B, Poewe W, Vodicka P, Vavrova J, Sonka K, Nevsimalova S, Schormair B, Lichtner P, Silander K, Peltonen L, Gieger C, Wichmann H, Zimprich A, Roeske D, Muller-Myhsok B, Meitinger T, Winkelmann J (2009) Replication of restless legs syndrome loci in three European populations J Med Genet, 46 (5): 315-318
  • Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller J, Illig T, Wichmann H, Lichtner P, Meitinger T, Strom T, Zimprich A, Zimprich F (2009) A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures Neurology, 72 (11): 974-978
  • Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskáčková T, Balaščák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann H, Melegh B, Polgár N, Toniolo D, Gasparini P, D'Adamo P, Klovins J, Nikitina-Zake L, Kučinskas V, Kasnauskienė J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julià A, Antonarakis S, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A (2009) Genetic Structure of Europeans: A View from the North–East PLoS One, 4 (5): e5472
  • Greisenegger E, Zimprich A, Zimprich F, Stingl G, Kopp T (2009) Analysis of the prodynorphin promoter polymorphism in atopic dermatitis and disease-related pruritus Clin Exp Dermatol, 34 (6): 728-730
  • Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A (2009) Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis J Eur Acad Dermatol Venereol, 24 (5): 607-610
  • Haubenberger D, Hotzy C, Pirker W, Katzenschlager R, Brücke T, Zimprich F, Auff E, Zimprich A (2009) Role of LINGO1 polymorphisms in Parkinson's disease Movement Disorders, : NA-NA
  • Zimprich A, Schulte C, Reinthaler E, Haubenberger D, Balzar J, Lichtner P, El Tawil S, Edris S, Foki T, Pirker W, Katzenschlager R, Daniel G, Brücke T, Auff E, Gasser T (2009) PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease Parkinsonism & Related Disorders, 15 (7): 532-534

2008 Original Articles

  • Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom T, Zimprich A (2008) A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis Neurogenetics, 10 (1): 73-77
  • Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom T, Zimprich A (2008) A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis Neurogenetics, 10 (1): 73-77
  • Paus S, Grünewald A, Klein C, Knapp M, Zimprich A, Janetzky B, Möller J, Klockgether T, Wüllner U (2008) TheDRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease Movement Disorders, 23 (4): 599-602
  • Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller JC, Meitinger T, Zimprich A, Strom TM (2008) A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy Epilepsia, 49 (6): 1108-1109
  • Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann C, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann H, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J (2008) PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome Nat Genet, 40 (8): 946-948
  • Zimprich A, Hatala K, Riederer F, Stogmann E, Aschauer H, Stamenkovic M (2008) Sequence analysis of the complete SLITRK1 gene in Austrian patients with Touretteʼs disorder Psychiat Gen, 18 (6): 308-309
  • Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom T, Zimprich A (2008) A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis Neurogenetics, 10 (1): 73-77

2007 Original Articles

  • Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brücke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A (2007) A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease Movement Disorders,
  • Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T (2007) Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions Nature Genetics,
  • Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF (2007) Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia Movement Disorders,

2006 Original Articles

  • Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A (2006) Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes Neurogenetics, 7(4): 265-8
  • Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A (2006) Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology, 67(11): 2029-31.
  • Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD) (2006) The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations Am J Med Genet,
  • Stogmann E, Zimprich A, Baumgartner C, Gleiss A, Zimprich F (2006) Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy Epilepsia,
  • Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A (2006) Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes Neurogenetics,
  • Haubenberger D, Prayer D, Bauer P, Pirker W, Zimprich A, Auff E (2006) Spinocerebellar ataxia type 17 in a patient from an Indian kindred J Neurol,
  • Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A (2006) Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations Neurology,

2005 Original Articles

  • Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Dürr A, Bonifati V, De Michele G, Hanagasi HA, Farrer M, Hofer A, Asmus F, Volpe G, Meco G, Brice A, Wood NW, Müller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD) (2005) PARK11 is not linked with Parkinson's disease in European families. Eur J Hum Genet,
  • Hofer A, Berg D, Asmus F, Niwar M, Ransmayr G, Riemenschneider M, Bonelli SB, Steffelbauer M, Ceballos-Baumann A, Haussermann P, Behnke S, Krüger R, Prestel J, Sharma M, Zimprich A, Riess O, Gasser T (2005) The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies J Neural Transm,
  • Asmus F, Schoenian S, Lichtner P, Munz M, Mayer P, Muller-Myhsok B, Zimprich A, Remschmidt H, Hebebrand J, Bandmann O, Gasser T (2005) Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome Neurogenetics,
  • Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L (2005) A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample Arch Neurol,
  • Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wüllner U, Meitinger T, Gasser T (2005) Multiple regions of alpha-synuclein are associated with Parkinson's disease Ann Neurol,
  • Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O (2005) Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients Movement Disorders,
  • Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A (2005) Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease Am J Med Genet B Neuropsychiatr Genet,
  • Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa Neurology,
  • Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A (2005) Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene Neurology,
  • Berg D, Schweitzer KJ, Leitner P, Zimprich A, Lichtner P, Belcredi P, Brüssel T, Schulte C, Maass S, Nägele T, Wszolek ZK, Gasser T (2005) Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease Brain,
  • Biskup S, Mueller JC, Sharma M, Lichtner P, Zimprich A, Berg D, Wüllner U, Illig T, Meitinger T, Gasser T (2005) Common variants of LRRK2 are not associated with sporadic Parkinson's disease Ann Neurol,

2004 Original Articles

  • Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T (2004) The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval AJHG,
  • Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW (2004) Autosomal dominant parkinsonism associated with variable synuclein and tau pathology Neurology,
  • Zimprich F, Sunder-Plassmann R, Stogmann E, Gleiss A, Dal-Bianco A, Zimprich A, Plumer S, Baumgartner C, Mannhalter C (2004) Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy Neurology,
  • Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology Neuron,
  • Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, Dürr A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. (2004) Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease J Med Genet,

2003 Original Articles

  • Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM (2003) The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted Eur J Hum Genet,
  • Zimprich A, Asmus F, Leitner P, Castro M, Bereznai B, Homann N, Ott E, Rutgers AW, Wieditz G, Trenkwalder C, Gasser T (2003) Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease Neurogenetics,

2002 Original Articles

  • Stögmann E, Zimprich A, Baumgartner C, Aull-Watschinger S, Höllt V, Zimprich F (2002) A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy Ann Neurol,
  • Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T, Wszolek ZK, Hardy J, Farrer MJ (2002) The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3 Gene,
  • Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T (2002) Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype Ann Neurol,

2001 Original Articles

  • Asmus F, Zimprich A, Naumann M, Berg D, Bertram M, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Müller-Myhsok B, Gasser T (2001) Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families Ann Neurol,
  • Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T (2001) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome Nature Genetics,
  • West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T (2001) Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes Eur J Hum Genet,

2000 Original Articles

  • Zimprich A, Kraus J, Wöltje M, Mayer P, Rauch E, Höllt V (2000) An allelic variation in the human prodynorphin gene promoter alters stimulus-induced expression J Neurochem,

1998 Original Articles

  • Schulz S, Schreff M, Koch T, Zimprich A, Gramsch C, Elde R, Höllt V (1998) Immunolocalization of two mu-opioid receptor isoforms (MOR1 and MOR1B) in the rat central nervous system Neuroscience,

1996 Original Articles

  • Mayer P, Schulzeck S, Kraus J, Zimprich A, Höllt V (1996) Promoter region and alternatively spliced exons of the rat mu-opioid receptor gene J Neurochem,

1995 Original Articles

  • Zimprich A, Simon T, Höllt V (1995) Cloning and expression of an isoform of the rat mu opioid receptor (rMOR1B) which differs in agonist induced desensitization from rMOR1 FEBS Letters,
  • Kraus J, Horn G, Zimprich A, Simon T, Mayer P, Höllt V (1995) Molecular cloning and functional analysis of the rat mu opioid receptor gene promoter Biochem Bioph Res Comm,
  • Zimprich A, Simon T, Höllt V (1995) Transfected rat mu opioid receptors (rMOR1 and rMOR1B) stimulate phospholipase C and Ca2+ mobilization Neuroreport,