Publications
2017
Tobias
Bäumer,
A.
Grimm, and
T.
Schelle,
[Diagnostic nerve ultrasonography], Radiologe , vol. 57, no. 3, pp. 157–165, 2017.
[Diagnostic nerve ultrasonography], Radiologe , vol. 57, no. 3, pp. 157–165, 2017.
DOI: | 10.1007/s00117-017-0218-y |
Simone
Zittel,
Katja
Lohmann,
Peter
Bauer,
Christine
Klein, and
Alexander
Münchau,
Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 88, no. 10, pp. 1000–1001, 2017.
Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 88, no. 10, pp. 1000–1001, 2017.
DOI: | 10.1212/WNL.0000000000003695 |
Eva
Hebert,
Friederike
Borngräber,
Alexander
Schmidt,
Aleksandar
Raković,
Ingrid
Brænne,
Anne
Weissbach,
Jennie
Hampf,
Eva-Juliane
Vollstedt,
Leopold
Größer,
Susen
Schaake,
Michaela
Müller,
Humera
Manzoor,
Hans-Christian
Jabusch,
Daniel
Alvarez-Fischer,
Meike
Kasten,
Vladimir S.
Kostić,
Thomas
Gasser,
Kirsten E.
Zeuner,
Han-Joon
Kim,
Beomseok
Jeon,
Peter
Bauer,
Eckart
Altenmüller,
Christine
Klein, and
Katja
Lohmann,
Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias, Genes , vol. 8, no. 10, pp. 276, 2017.
Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias, Genes , vol. 8, no. 10, pp. 276, 2017.
DOI: | 10.3390/genes8100276 |
Christine
Klein,
Katja
Lohmann,
Connie
Marras, and
Alexander
Münchau,
Hereditary Dystonia Overview, in GeneReviews , Adam, Margaret P. and Ardinger, Holly H. and Pagon, Roberta A. and Wallace, Stephanie E. and Bean, Lora JH and Mefford, Heather C. and Stephens, Karen and Amemiya, Anne and Ledbetter, Nikki, Eds. University of Washington, Seattle, 2017.
Hereditary Dystonia Overview, in GeneReviews , Adam, Margaret P. and Ardinger, Holly H. and Pagon, Roberta A. and Wallace, Stephanie E. and Bean, Lora JH and Mefford, Heather C. and Stephens, Karen and Amemiya, Anne and Ledbetter, Nikki, Eds. University of Washington, Seattle, 2017.
Davina J. Hensman
Moss,
Antonio F.
Pardiñas,
Douglas
Langbehn,
Kitty
Lo,
Blair R.
Leavitt,
Raymund
Roos,
Alexandra
Dürr,
Simon
Mead,
[GROUP]
TRACK-HD investigators,
[GROUP]
REGISTRY investigators,
Peter
Holmans,
Lesley
Jones, and
Sarah J.
Tabrizi,
Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study, Lancet Neurol , vol. 16, no. 9, pp. 701–711, 2017.
Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study, Lancet Neurol , vol. 16, no. 9, pp. 701–711, 2017.
DOI: | 10.1016/S1474-4422(17)30161-8 |
Rebecca
Herzog,
Adib
Zendedel,
Leoni
Lammerding,
Cordian
Beyer, and
Alexander
Slowik,
Impact of 17beta-estradiol and progesterone on inflammatory and apoptotic microRNA expression after ischemia in a rat model, J Steroid Biochem Mol Biol , vol. 167, pp. 126–134, 2017.
Impact of 17beta-estradiol and progesterone on inflammatory and apoptotic microRNA expression after ischemia in a rat model, J Steroid Biochem Mol Biol , vol. 167, pp. 126–134, 2017.
DOI: | 10.1016/j.jsbmb.2016.11.018 |
Anne
Weissbach,
Inke R.
König,
Katja
Hückelheim,
Peter P.
Pramstaller,
Elisa
Werner,
Norbert
Brüggemann,
Vera
Tadic,
Katja
Lohmann,
Tobias
Bäumer,
Alexander
Münchau,
Meike
Kasten, and
Christine
Klein,
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers, Parkinsonism Relat Disord , vol. 42, pp. 95–99, 2017.
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers, Parkinsonism Relat Disord , vol. 42, pp. 95–99, 2017.
DOI: | 10.1016/j.parkreldis.2017.07.003 |
A.
Schramm,
D.
Huber,
C.
Möbius,
Alexander
Münchau,
Z.
Kohl, and
Tobias
Bäumer,
Involvement of obliquus capitis inferior muscle in dystonic head tremor, Parkinsonism Relat Disord , vol. 44, pp. 119–123, 2017.
Involvement of obliquus capitis inferior muscle in dystonic head tremor, Parkinsonism Relat Disord , vol. 44, pp. 119–123, 2017.
DOI: | 10.1016/j.parkreldis.2017.07.034 |
J.
Prasuhn,
L.
Piskol,
E.-J.
Vollstedt,
J.
Graf,
A.
Schmidt,
Vera
Tadic,
Sinem
Tunc,
J.
Hampf,
E.
Warrlich,
C.
Bibergeil,
J.
Hagenah,
C.
Klein,
M.
Kasten, and
N.
Brüggemann,
Non-motor symptoms and quality of life in subjects with mild parkinsonian signs, Acta Neurol Scand , vol. 136, no. 5, pp. 495–500, 2017.
Non-motor symptoms and quality of life in subjects with mild parkinsonian signs, Acta Neurol Scand , vol. 136, no. 5, pp. 495–500, 2017.
DOI: | 10.1111/ane.12760 |
Karen
Grütz,
Philip
Seibler,
Anne
Weissbach,
Katja
Lohmann,
Francesca A.
Carlisle,
Derek J.
Blake,
Ana
Westenberger,
Christine
Klein, and
Anne
Grünewald,
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia, Sci Rep , vol. 7, pp. 41156, 2017.
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia, Sci Rep , vol. 7, pp. 41156, 2017.
DOI: | 10.1038/srep41156 |
Katja
Lohmann,
Ikuo
Masuho,
Dipak N.
Patil,
Hauke
Baumann,
Eva
Hebert,
Sofia
Steinrücke,
Daniel
Trujillano,
Nickolas K.
Skamangas,
Valerija
Dobricic,
Irina
Hüning,
Gabriele
Gillessen-Kaesbach,
Ana
Westenberger,
Dusanka
Savic-Pavicevic,
Alexander
Münchau,
Gabriela
Oprea,
Christine
Klein,
Arndt
Rolfs, and
Kirill A.
Martemyanov,
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans, Hum Mol Genet , vol. 26, no. 6, pp. 1078–1086, 2017.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans, Hum Mol Genet , vol. 26, no. 6, pp. 1078–1086, 2017.
DOI: | 10.1093/hmg/ddx018 |
Valerie C.
Brandt,
Katja
Herrmann,
Julia
Kerner Auch Koerner, and
Alexander
Münchau,
Perceived and real tic suppression ability and its relation to impulsivity, Mov Disord , vol. 32, no. 12, pp. 1795–1796, 2017.
Perceived and real tic suppression ability and its relation to impulsivity, Mov Disord , vol. 32, no. 12, pp. 1795–1796, 2017.
DOI: | 10.1002/mds.27202 |
Brian D.
Berman,
Johanna
Junker,
Erika
Shelton,
Stefan H.
Sillau,
H. A.
Jinnah,
Joel S.
Perlmutter,
Alberto J.
Espay,
Joseph
Jankovic,
Marie
Vidailhet,
Cecilia
Bonnet,
William
Ondo,
Irene A.
Malaty,
Ramón
Rodríguez,
William M.
McDonald,
Laura
Marsh,
Mateusz
Zurowski,
Tobias
Bäumer, and
Norbert
Brüggemann,
Psychiatric associations of adult-onset focal dystonia phenotypes, J Neurol Neurosurg Psychiatry , vol. 88, no. 7, pp. 595–602, 2017.
Psychiatric associations of adult-onset focal dystonia phenotypes, J Neurol Neurosurg Psychiatry , vol. 88, no. 7, pp. 595–602, 2017.
DOI: | 10.1136/jnnp-2016-315461 |
Odette
Fründt,
Wiebke
Grashorn,
Daniel
Schöttle,
Ina
Peiker,
Nicole
David,
Andreas K.
Engel,
Katarina
Forkmann,
Nathalie
Wrobel,
Alexander
Münchau, and
Ulrike
Bingel,
Quantitative Sensory Testing in adults with Autism Spectrum Disorders, J Autism Dev Disord , vol. 47, no. 4, pp. 1183–1192, 2017.
Quantitative Sensory Testing in adults with Autism Spectrum Disorders, J Autism Dev Disord , vol. 47, no. 4, pp. 1183–1192, 2017.
DOI: | 10.1007/s10803-017-3041-4 |
Elisabeth
Wenger,
Simone
Kühn,
Julius
Verrel,
Johan
Mårtensson,
Nils Christian
Bodammer,
Ulman
Lindenberger, and
Martin
Lövdén,
Repeated Structural Imaging Reveals Nonlinear Progression of Experience-Dependent Volume Changes in Human Motor Cortex, Cereb Cortex , vol. 27, no. 5, pp. 2911–2925, 2017.
Repeated Structural Imaging Reveals Nonlinear Progression of Experience-Dependent Volume Changes in Human Motor Cortex, Cereb Cortex , vol. 27, no. 5, pp. 2911–2925, 2017.
DOI: | 10.1093/cercor/bhw141 |
N.
Brüggemann,
R. L.
Rosales,
J. L.
Waugh,
A. J.
Blood,
A.
Domingo,
M.
Heldmann,
R. D.
Jamora,
Alexander
Münchau,
T. F.
Münte,
L. V.
Lee,
I.
Buchmann, and
C.
Klein,
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression, Eur J Neurol , vol. 24, no. 5, pp. 680–686, 2017.
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression, Eur J Neurol , vol. 24, no. 5, pp. 680–686, 2017.
DOI: | 10.1111/ene.13256 |
Christian
Beste,
Moritz
Mückschel,
Raymond
Rosales,
Aloysius
Domingo,
Lillian
Lee,
Arlene
Ng,
Christine
Klein, and
Alexander
Münchau,
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism, Mov Disord , vol. 32, no. 4, pp. 576–584, 2017.
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism, Mov Disord , vol. 32, no. 4, pp. 576–584, 2017.
DOI: | 10.1002/mds.26895 |
Alexander Münchau,
Faust hatte ADHS, Frankfurter Allgemeine Sonntagszeitung , 2017.
Faust hatte ADHS, Frankfurter Allgemeine Sonntagszeitung , 2017.
Sinem
Tunc,
Norbert
Brüggemann,
Magdalena K.
Baaske,
Corinna
Hartmann,
Karen
Grütz,
Ana
Westenberger,
Christine
Klein,
Alexander
Münchau, and
Tobias
Bäumer,
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study, Parkinsonism Relat Disord , vol. 40, pp. 73–75, 2017.
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study, Parkinsonism Relat Disord , vol. 40, pp. 73–75, 2017.
DOI: | 10.1016/j.parkreldis.2017.04.013 |
Christiane
Stieber,
Martin
Mücke,
Isabelle C.
Windheuser,
Lorenz
Grigull,
Frank
Klawonn,
Sinem
Tunc,
Alexander
Münchau, and
Thomas
Klockgether,
[On the fast track to diagnosis : Recommendations for patients without a diagnosis], Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz , vol. 60, no. 5, pp. 517–522, 2017.
[On the fast track to diagnosis : Recommendations for patients without a diagnosis], Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz , vol. 60, no. 5, pp. 517–522, 2017.
DOI: | 10.1007/s00103-017-2535-8 |
Simone
Zittel,
Daniel
Alvarez-Fischer,
Ulrich
Schweiger,
Christine
Klein, and
Alexander
Münchau,
Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 89, no. 3, pp. 307, 2017.
Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 89, no. 3, pp. 307, 2017.
DOI: | 10.1212/WNL.0000000000004133 |
Lara M.
Lange,
Sinem
Tunc,
Stephanie
Tennstedt,
Alexander
Münchau,
Christine
Klein,
Birgit
Assmann, and
Katja
Lohmann,
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia, Mov Disord , vol. 32, no. 10, pp. 1495–1497, 2017.
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia, Mov Disord , vol. 32, no. 10, pp. 1495–1497, 2017.
DOI: | 10.1002/mds.27137 |
Anne
Weissbach,
Tobias
Bäumer,
Peter P.
Pramstaller,
Norbert
Brüggemann,
Vera
Tadic,
Robert
Chen,
Christine
Klein, and
Alexander
Münchau,
Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers, Clin Neurophysiol , vol. 128, no. 1, pp. 275–280, 2017.
Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers, Clin Neurophysiol , vol. 128, no. 1, pp. 275–280, 2017.
DOI: | 10.1016/j.clinph.2016.10.007 |
Alexander
Balck,
Henrike
Hanssen,
Yorck
Hellenbroich,
Katja
Lohmann, and
Alexander
Münchau,
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A, J Neurol , vol. 264, no. 7, pp. 1520–1522, 2017.
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A, J Neurol , vol. 264, no. 7, pp. 1520–1522, 2017.
DOI: | 10.1007/s00415-017-8494-z |
Anne
Weissbach,
Elisa
Werner,
Julien F.
Bally,
Sinem
Tunc,
Sebastian
Löns,
Dagmar
Timmann,
Kirsten E.
Zeuner,
Vera
Tadic,
Norbert
Brüggemann,
Anthony
Lang,
Christine
Klein,
Alexander
Münchau, and
Tobias
Bäumer,
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation, Ann Neurol , vol. 82, no. 4, pp. 543–553, 2017.
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation, Ann Neurol , vol. 82, no. 4, pp. 543–553, 2017.
DOI: | 10.1002/ana.25035 |
Ana
Westenberger,
Christoph
Max,
Norbert
Brüggemann,
Aloysius
Domingo,
Karen
Grütz,
Heike
Pawlack,
Anne
Weissbach,
Andrea A.
Kühn,
Juliane
Spiegler,
Anthony E.
Lang,
Jürgen
Sperner,
Victor S. C.
Fung,
Jens
Schallner,
Gabriele
Gillessen-Kaesbach,
Alexander
Münchau, and
Christine
Klein,
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases, J Pediatr , vol. 181, pp. 306-308.e1, 2017.
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases, J Pediatr , vol. 181, pp. 306-308.e1, 2017.
DOI: | 10.1016/j.jpeds.2016.10.079 |
Susanne
Steinlechner,
Johann
Hagenah,
Hans-Jürgen
Rumpf,
Christian
Meyer,
Ulrich
John,
Tobias
Bäumer,
Norbert
Brüggemann,
Meike
Kasten,
Alexander
Münchau,
Christine
Klein, and
Rebekka
Lencer,
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson’s disease, J Neurol , vol. 264, no. 6, pp. 1076–1084, 2017.
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson’s disease, J Neurol , vol. 264, no. 6, pp. 1076–1084, 2017.
DOI: | 10.1007/s00415-017-8488-x |
Sinem
Tunc, and
Alexander
Münchau,
Boys in a famous choir: Singing and ticcing, Ann Neurol , vol. 82, no. 6, pp. 1029–1031, 2017.
Boys in a famous choir: Singing and ticcing, Ann Neurol , vol. 82, no. 6, pp. 1029–1031, 2017.
DOI: | 10.1002/ana.25112 |
Valerie C.
Brandt,
Ann-Kathrin
Stock,
Alexander
Münchau, and
Christian
Beste,
Evidence for enhanced multi-component behaviour in Tourette syndrome - an EEG study, Sci Rep , vol. 7, no. 1, pp. 7722, 2017.
Evidence for enhanced multi-component behaviour in Tourette syndrome - an EEG study, Sci Rep , vol. 7, no. 1, pp. 7722, 2017.
DOI: | 10.1038/s41598-017-08158-9 |
Vera
Tadic,
Christine
Klein,
Frauke
Hinrichs,
Alexander
Münchau,
Katja
Lohmann, and
Norbert
Brüggemann,
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia, J Neurol , vol. 264, no. 5, pp. 1008–1010, 2017.
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia, J Neurol , vol. 264, no. 5, pp. 1008–1010, 2017.
DOI: | 10.1007/s00415-017-8464-5 |
Tobias
Bäumer,
Valeria
Sajin, and
Alexander
Münchau,
Childhood-Onset Movement Disorders: A Clinical Series of 606 Cases, Mov Disord Clin Pract , vol. 4, no. 3, pp. 437–440, 2017.
Childhood-Onset Movement Disorders: A Clinical Series of 606 Cases, Mov Disord Clin Pract , vol. 4, no. 3, pp. 437–440, 2017.
DOI: | 10.1002/mdc3.12399 |
A. Jeremy
Willsey,
Thomas V.
Fernandez,
Dongmei
Yu,
Robert A.
King,
Andrea
Dietrich,
Jinchuan
Xing,
Stephan J.
Sanders,
Jeffrey D.
Mandell,
Alden Y.
Huang,
Petra
Richer,
Louw
Smith,
Shan
Dong,
Kaitlin E.
Samocha,
[GROUP]
Tourette International Collaborative Genetics (TIC Genetics),
[GROUP]
Tourette Syndrome Association International Consortium for Genetics (TSAICG),
Benjamin M.
Neale,
Giovanni
Coppola,
Carol A.
Mathews,
Jay A.
Tischfield,
Jeremiah M.
Scharf,
Matthew W.
State, and
Gary A.
Heiman,
De Novo Coding Variants Are Strongly Associated with Tourette Disorder, Neuron , vol. 94, no. 3, pp. 486-499.e9, 2017.
De Novo Coding Variants Are Strongly Associated with Tourette Disorder, Neuron , vol. 94, no. 3, pp. 486-499.e9, 2017.
DOI: | 10.1016/j.neuron.2017.04.024 |
Caroline
Seer,
Florian
Lange,
Sebastian
Löns,
Florian
Wegner,
Christoph
Schrader,
Dirk
Dressler,
Reinhard
Dengler, and
Bruno
Kopp,
Dopaminergic modulation of performance monitoring in Parkinson’s disease: An event-related potential study, Sci Rep , vol. 7, pp. 41222, 2017.
Dopaminergic modulation of performance monitoring in Parkinson’s disease: An event-related potential study, Sci Rep , vol. 7, pp. 41222, 2017.
DOI: | 10.1038/srep41222 |
Christian
Beste,
Moritz
Mückschel,
Raymond
Rosales,
Aloysius
Domingo,
Lillian
Lee,
Arlene
Ng,
Christine
Klein, and
Alexander
Münchau,
Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding, Brain Struct Funct , vol. 222, no. 8, pp. 3807–3817, 2017.
Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding, Brain Struct Funct , vol. 222, no. 8, pp. 3807–3817, 2017.
DOI: | 10.1007/s00429-017-1435-x |
Sebastian
Löns,
Elena
Chorbadzhieva,
Alexandra
Kleimann,
Dirk
Dressler, and
Christoph
Schrader,
Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy, Brain Behav , vol. 7, no. 5, pp. e00698, 2017.
Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy, Brain Behav , vol. 7, no. 5, pp. e00698, 2017.
DOI: | 10.1002/brb3.698 |
Hauke
Baumann,
Simone
Wolff,
Alexander
Münchau,
Johann M.
Hagenah,
Katja
Lohmann, and
Christine
Klein,
Evaluating the role of TMEM230 variants in Parkinson’s disease, Parkinsonism Relat Disord , vol. 35, pp. 100–101, 2017.
Evaluating the role of TMEM230 variants in Parkinson’s disease, Parkinsonism Relat Disord , vol. 35, pp. 100–101, 2017.
DOI: | 10.1016/j.parkreldis.2016.12.015 |
Davide
Martino,
Tamara M.
Pringsheim,
Andrea E.
Cavanna,
Carlo
Colosimo,
Andreas
Hartmann,
James F.
Leckman,
Sheng
Luo,
Alexander
Münchau,
Christopher G.
Goetz,
Glenn T.
Stebbins,
Pablo
Martinez-Martin, and
[GROUP]
Members of the MDS Committee on Rating Scales Development,
Systematic review of severity scales and screening instruments for tics: Critique and recommendations, Mov Disord , vol. 32, no. 3, pp. 467–473, 2017.
Systematic review of severity scales and screening instruments for tics: Critique and recommendations, Mov Disord , vol. 32, no. 3, pp. 467–473, 2017.
DOI: | 10.1002/mds.26891 |