Publications
2018
N. H.
Jung,
Alexander
Münchau, and
V.
Mall,
[Neuronal plasticity and neuromodulation in pediatric neurology], Nervenarzt , vol. 89, no. 10, pp. 1131–1139, 2018.
[Neuronal plasticity and neuromodulation in pediatric neurology], Nervenarzt , vol. 89, no. 10, pp. 1131–1139, 2018.
DOI: | 10.1007/s00115-018-0586-1 |
Sinem
Tunc,
Vera
Tadic,
Christine
Zühlke,
Yorck
Hellenbroich, and
Norbert
Brüggemann,
Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy, Neurology , vol. 90, no. 3, pp. 142–143, 2018.
Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy, Neurology , vol. 90, no. 3, pp. 142–143, 2018.
DOI: | 10.1212/WNL.0000000000004833 |
H. A.
Jinnah,
Alberto
Albanese,
Kailash P.
Bhatia,
Francisco
Cardoso,
Gustavo
Da Prat,
Tom J.
de Koning,
Alberto J.
Espay,
Victor
Fung,
Pedro J.
Garcia-Ruiz,
Oscar
Gershanik,
Joseph
Jankovic,
Ryuji
Kaji,
Katya
Kotschet,
Connie
Marras,
Janis M.
Miyasaki,
Francesca
Morgante,
Alexander
Münchau,
Pramod Kumar
Pal,
Maria C.
Rodriguez Oroz,
Mayela
Rodríguez-Violante,
Ludger
Schöls,
Maria
Stamelou,
Marina
Tijssen,
Claudia
Uribe Roca,
Andres
de la Cerda,
Emilia M.
Gatto, and
[GROUP]
International Parkinson’s Disease Movement Disorders Society Task Force on Rare Movement Disorders,
Treatable inherited rare movement disorders, Mov Disord , vol. 33, no. 1, pp. 21–35, 2018.
Treatable inherited rare movement disorders, Mov Disord , vol. 33, no. 1, pp. 21–35, 2018.
DOI: | 10.1002/mds.27140 |
Christian
Beste, and
Alexander
Münchau,
Tics and Tourette syndrome - surplus of actions rather than disorder?, Mov Disord , vol. 33, no. 2, pp. 238–242, 2018.
Tics and Tourette syndrome - surplus of actions rather than disorder?, Mov Disord , vol. 33, no. 2, pp. 238–242, 2018.
DOI: | 10.1002/mds.27244 |
Valerie C.
Brandt,
Johanna
Hermanns,
Christian
Beck,
Tobias
Bäumer,
Bartosz
Zurowski, and
Alexander
Münchau,
The temporal relationship between premonitory urges and covert compulsions in patients with obsessive-compulsive disorder, Psychiatry Res , vol. 262, pp. 6–12, 2018.
The temporal relationship between premonitory urges and covert compulsions in patients with obsessive-compulsive disorder, Psychiatry Res , vol. 262, pp. 6–12, 2018.
DOI: | 10.1016/j.psychres.2018.01.041 |
Christian
Beste,
Moritz
Mückschel,
Raymond
Rosales,
Aloysius
Domingo,
Lillian
Lee,
Arlene
Ng,
Christine
Klein, and
Alexander
Münchau,
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism, Cereb Cortex , vol. 28, no. 7, pp. 2243–2252, 2018.
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism, Cereb Cortex , vol. 28, no. 7, pp. 2243–2252, 2018.
DOI: | 10.1093/cercor/bhx125 |
Christian
Beste,
Christian K. E.
Moll,
Monika
Pötter-Nerger, and
Alexander
Münchau,
Striatal Microstructure and Its Relevance for Cognitive Control, Trends Cogn Sci , vol. 22, no. 9, pp. 747–751, 2018.
Striatal Microstructure and Its Relevance for Cognitive Control, Trends Cogn Sci , vol. 22, no. 9, pp. 747–751, 2018.
DOI: | 10.1016/j.tics.2018.06.007 |
Andrew
Sharott,
Alessandro
Gulberti,
Wolfgang
Hamel,
Johannes A.
Köppen,
Alexander
Münchau,
Carsten
Buhmann,
Monika
Pötter-Nerger,
Manfred
Westphal,
Christian
Gerloff,
Christian K. E.
Moll, and
Andreas K.
Engel,
Spatio-temporal dynamics of cortical drive to human subthalamic nucleus neurons in Parkinson’s disease, Neurobiol Dis , vol. 112, pp. 49–62, 2018.
Spatio-temporal dynamics of cortical drive to human subthalamic nucleus neurons in Parkinson’s disease, Neurobiol Dis , vol. 112, pp. 49–62, 2018.
DOI: | 10.1016/j.nbd.2018.01.001 |
Alexander Münchau,
Seltene neurologische Erkrankungen, Nervenheilkunde , vol. 37, no. 03, pp. 119–121, 2018.
Seltene neurologische Erkrankungen, Nervenheilkunde , vol. 37, no. 03, pp. 119–121, 2018.
DOI: | 10.1055/s-0038-1642085 |
Paul
McNulty,
Richard
Pilcher,
Raviram
Ramesh,
Renata
Necuiniate,
Alis
Hughes,
Daniel
Farewell,
Peter
Holmans,
Lesley
Jones, and
[GROUP]
REGISTRY Investigators of the European Huntington’s Disease Network,
Reduced cancer incidence in Huntington’s disease: analysis in the Registry study, J Huntington Disease , vol. 7, no. 3, pp. 209–222, 2018.
Reduced cancer incidence in Huntington’s disease: analysis in the Registry study, J Huntington Disease , vol. 7, no. 3, pp. 209–222, 2018.
M.
Blankenburg,
J.
Junker,
G.
Hirschfeld,
E.
Michel,
F.
Aksu,
J.
Wager, and
B.
Zernikow,
Quantitative sensory testing profiles in children, adolescents and young adults (6-20 years) with cerebral palsy: Hints for a neuropathic genesis of pain syndromes, Eur J Paediatr Neurol , vol. 22, no. 3, pp. 470–481, 2018.
Quantitative sensory testing profiles in children, adolescents and young adults (6-20 years) with cerebral palsy: Hints for a neuropathic genesis of pain syndromes, Eur J Paediatr Neurol , vol. 22, no. 3, pp. 470–481, 2018.
DOI: | 10.1016/j.ejpn.2017.12.015 |
S.
Zittel,
Vera
Tadic,
C. K. E.
Moll,
Tobias
Bäumer,
A.
Fellbrich,
A.
Gulberti,
D.
Rasche,
N.
Brüggemann,
V.
Tronnier, and
Alexander
Münchau,
Prospective evaluation of Globus pallidus internus deep brain stimulation in Huntington’s disease, Parkinsonism Relat Disord , vol. 51, pp. 96–100, 2018.
Prospective evaluation of Globus pallidus internus deep brain stimulation in Huntington’s disease, Parkinsonism Relat Disord , vol. 51, pp. 96–100, 2018.
DOI: | 10.1016/j.parkreldis.2018.02.030 |
O.
Kuseyri,
Anne
Weissbach,
N.
Brüggemann,
C.
Klein,
M.
Giżewska,
D.
Karall,
S.
Scholl-Bürgi,
H.
Romanowska,
E.
Krzywińska-Zdeb,
A. A.
Monavari,
I.
Knerr,
Z.
Yapıcı,
V.
Leuzzi, and
T.
Opladen,
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders, J Inherit Metab Dis , vol. 41, no. 5, pp. 849–863, 2018.
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders, J Inherit Metab Dis , vol. 41, no. 5, pp. 849–863, 2018.
DOI: | 10.1007/s10545-018-0169-0 |
Johanna
Junker,
Valerie
Brandt,
Brian D.
Berman,
Marie
Vidailhet,
Emmanuel
Roze,
Anne
Weissbach,
Cynthia
Comella,
Irene A.
Malaty,
Joseph
Jankovic,
Mark S.
LeDoux,
Alfredo
Berardelli,
Richard
Barbano,
Stephen G.
Reich,
Joel S.
Perlmutter,
H. A.
Jinnah, and
Norbert
Brüggemann,
Predictors of alcohol responsiveness in dystonia, Neurology , vol. 91, no. 21, pp. e2020–e2026, 2018.
Predictors of alcohol responsiveness in dystonia, Neurology , vol. 91, no. 21, pp. e2020–e2026, 2018.
DOI: | 10.1212/WNL.0000000000006551 |
Humera
Manzoor,
Norbert
Brüggemann,
Hafiz Muhammad Jafar
Hussain,
Tobias
Bäumer,
Frauke
Hinrichs,
Muhammad
Wajid,
Alexander
Münchau,
Sadaf
Naz, and
Katja
Lohmann,
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders, Parkinsonism Relat Disord , vol. 51, pp. 91–95, 2018.
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders, Parkinsonism Relat Disord , vol. 51, pp. 91–95, 2018.
DOI: | 10.1016/j.parkreldis.2018.02.005 |
Alexander
Balck,
Sinem
Tunc,
Johanna
Schmitz,
Ronja
Hollstein,
Frank J.
Kaiser, and
Norbert
Brüggemann,
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2, Cerebellum , vol. 17, no. 4, pp. 504–506, 2018.
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2, Cerebellum , vol. 17, no. 4, pp. 504–506, 2018.
DOI: | 10.1007/s12311-018-0931-8 |
Eunju
Seong,
Ryan
Insolera,
Marija
Dulovic,
Erik-Jan
Kamsteeg,
Joanne
Trinh,
Norbert
Brüggemann,
Erin
Sandford,
Sheng
Li,
Ayse Bilge
Ozel,
Jun Z.
Li,
Tamison
Jewett,
Anneke J. A.
Kievit,
Alexander
Münchau,
Vikram
Shakkottai,
Christine
Klein,
Catherine A.
Collins,
Katja
Lohmann,
Bart P.
van de Warrenburg, and
Margit
Burmeister,
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects, Ann Neurol , vol. 83, no. 6, pp. 1075–1088, 2018.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects, Ann Neurol , vol. 83, no. 6, pp. 1075–1088, 2018.
DOI: | 10.1002/ana.25220 |
J.
Tübing,
J.
Bohnenpoll,
J.
Spiegler,
G.
Gillessen-Kaesbach,
Tobias
Bäumer,
C.
Max,
J.
Sperner,
C.
Klein, and
Alexander
Münchau,
Methylphenidate Can Improve Chorea in NKX2.1 and ADCY5 Mutation-positive Patients-A Report of Two Children, Mov Disord Clin Pract , vol. 5, no. 3, pp. 343–345, 2018.
Methylphenidate Can Improve Chorea in NKX2.1 and ADCY5 Mutation-positive Patients-A Report of Two Children, Mov Disord Clin Pract , vol. 5, no. 3, pp. 343–345, 2018.
DOI: | 10.1002/mdc3.12608 |
Philip
Seibler,
Lena F.
Burbulla,
Marija
Dulovic,
Simone
Zittel,
Johanne
Heine,
Thomas
Schmidt,
Franziska
Rudolph,
Ana
Westenberger,
Aleksandar
Raković,
Alexander
Münchau,
Dimitri
Krainc, and
Christine
Klein,
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells, Brain , vol. 141, no. 10, pp. 3052–3064, 2018.
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells, Brain , vol. 141, no. 10, pp. 3052–3064, 2018.
DOI: | 10.1093/brain/awy230 |
Mohamed
Abdulkadir,
Douglas
Londono,
Derek
Gordon,
Thomas V.
Fernandez,
Lawrence W.
Brown,
Keun-Ah
Cheon,
Barbara J.
Coffey,
Lonneke
Elzerman,
Carolin
Fremer,
Odette
Fründt,
Blanca
Garcia-Delgar,
Donald L.
Gilbert,
Dorothy E.
Grice,
Tammy
Hedderly,
Isobel
Heyman,
Hyun Ju
Hong,
Chaim
Huyser,
Laura
Ibanez-Gomez,
Ewgeni
Jakubovski,
Young Key
Kim,
Young Shin
Kim,
Yun-Joo
Koh,
Sodahm
Kook,
Samuel
Kuperman,
Bennett
Leventhal,
Andrea G.
Ludolph,
Marcos
Madruga-Garrido,
Athanasios
Maras,
Pablo
Mir,
Astrid
Morer,
Kirsten
Müller-Vahl,
Alexander
Münchau,
Tara L.
Murphy,
Kerstin J.
Plessen,
Veit
Roessner,
Eun-Young
Shin,
Dong-Ho
Song,
Jungeun
Song,
Jennifer
Tübing,
Els
van den Ban,
Frank
Visscher,
Sina
Wanderer,
Martin
Woods,
Samuel H.
Zinner,
Robert A.
King,
Jay A.
Tischfield,
Gary A.
Heiman,
Pieter J.
Hoekstra, and
Andrea
Dietrich,
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach, Eur Arch Psychiatry Clin Neurosci , vol. 268, no. 3, pp. 301–316, 2018.
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach, Eur Arch Psychiatry Clin Neurosci , vol. 268, no. 3, pp. 301–316, 2018.
DOI: | 10.1007/s00406-017-0808-8 |
Joanne
Trinh,
Vera
Tadic, and
Christine
Klein,
How Do I Confirm that a New Mutation is Pathogenic?, Mov Disord Clin Pract , vol. 5, no. 2, pp. 229, 2018.
How Do I Confirm that a New Mutation is Pathogenic?, Mov Disord Clin Pract , vol. 5, no. 2, pp. 229, 2018.
DOI: | 10.1002/mdc3.12600 |
Anne
Weissbach, and
Katja
Lohmann,
Genetische Ursachen bei Dystonien, Aktuel Neurol , vol. 45, no. 10, pp. 726–736, 2018.
Genetische Ursachen bei Dystonien, Aktuel Neurol , vol. 45, no. 10, pp. 726–736, 2018.
DOI: | 10.1055/a-0740-3212 |
Hauke
Baumann,
Magdalena
Jahn,
Alexander
Münchau,
Michaela
Trilck-Winkler,
Katja
Lohmann, and
Philip
Seibler,
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers, Stem Cell Res , vol. 33, pp. 60–64, 2018.
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers, Stem Cell Res , vol. 33, pp. 60–64, 2018.
DOI: | 10.1016/j.scr.2018.09.018 |
L.
Schöls,
H.
Graessner, and
Alexander
Münchau,
Deutsche Akademie für Seltene Neurologische Erkrankungen, Nervenheilkunde , vol. 37, no. 03, pp. 136–141, 2018.
Deutsche Akademie für Seltene Neurologische Erkrankungen, Nervenheilkunde , vol. 37, no. 03, pp. 136–141, 2018.
DOI: | 10.1055/s-0038-1642087 |
Sheng
Wang,
Jeffrey D.
Mandell,
Yogesh
Kumar,
Nawei
Sun,
Montana T.
Morris,
Juan
Arbelaez,
Cara
Nasello,
Shan
Dong,
Clif
Duhn,
Xin
Zhao,
Zhiyu
Yang,
Shanmukha S.
Padmanabhuni,
Dongmei
Yu,
Robert A.
King,
Andrea
Dietrich,
Najah
Khalifa,
Niklas
Dahl,
Alden Y.
Huang,
Benjamin M.
Neale,
Giovanni
Coppola,
Carol A.
Mathews,
Jeremiah M.
Scharf,
[GROUP]
Tourette International Collaborative Genetics Study (TIC Genetics),
[GROUP]
Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE),
[GROUP]
Tourette Association of America International Consortium for Genetics (TAAICG),
Thomas V.
Fernandez,
Joseph D.
Buxbaum,
Silvia
De Rubeis,
Dorothy E.
Grice,
Jinchuan
Xing,
Gary A.
Heiman,
Jay A.
Tischfield,
Peristera
Paschou,
A. Jeremy
Willsey, and
Matthew W.
State,
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis, Cell Rep , vol. 24, no. 13, pp. 3441-3454.e12, 2018.
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis, Cell Rep , vol. 24, no. 13, pp. 3441-3454.e12, 2018.
DOI: | 10.1016/j.celrep.2018.08.082 |
L.
Schöls,
T.
Gasser,
I.
Krägeloh-Mann,
H.
Graessner,
T.
Klockgether, and
Alexander
Münchau,
Centers for Rare Neurological Diseases, Aktuel Neurol , vol. 45, no. 3, pp. 178–186, 2018.
Centers for Rare Neurological Diseases, Aktuel Neurol , vol. 45, no. 3, pp. 178–186, 2018.
DOI: | 10.1055/s-0043-114000 |
Jennifer
Tübing,
Bettina
Gigla,
Valerie Cathérine
Brandt,
Julius
Verrel,
Anne
Weissbach,
Christian
Beste,
Alexander
Münchau, and
Tobias
Bäumer,
Associative plasticity in supplementary motor area - motor cortex pathways in Tourette syndrome, Sci Rep , vol. 8, no. 1, pp. 11984, 2018.
Associative plasticity in supplementary motor area - motor cortex pathways in Tourette syndrome, Sci Rep , vol. 8, no. 1, pp. 11984, 2018.
DOI: | 10.1038/s41598-018-30504-8 |
Martje G.
Pauly,
Victor
Krajka,
Felix
Stengel,
Philip
Seibler,
Christine
Klein, and
Philipp
Capetian,
Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells, Front Cell Dev Biol , vol. 6, pp. 3, 2018.
Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells, Front Cell Dev Biol , vol. 6, pp. 3, 2018.
DOI: | 10.3389/fcell.2018.00003 |
Odette
Fründt,
Robert
Schulz,
Daniel
Schöttle,
Bastian
Cheng,
Götz
Thomalla,
Hanna
Braass,
Christos
Ganos,
Nicole
David,
Ina
Peiker,
Andreas K.
Engel,
Tobias
Bäumer, and
Alexander
Münchau,
White Matter Microstructure of the Human Mirror Neuron System is Related to Symptom Severity in Adults with Autism, J Autism Dev Disord , vol. 48, no. 2, pp. 417–429, 2018.
White Matter Microstructure of the Human Mirror Neuron System is Related to Symptom Severity in Adults with Autism, J Autism Dev Disord , vol. 48, no. 2, pp. 417–429, 2018.
DOI: | 10.1007/s10803-017-3332-9 |