General Information of Disease (ID: DISX9D54)

Disease Name Tourette syndrome
Synonyms
GTS; chronic motor tics; Gilles De 50A Tourette syndrome; Tourette disorder; Gilles de la Tourette syndrome; Tourette disease; motor-verbal tic disorder; Guinon's disease; Tourette's syndrome; Tourette syndrome; psychogenic tics
Disease Class 8A05: Tic disorder
Definition
A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISD715V: Hereditary neurological disease
DIS1CYA2: Convulsion
DISOJJ2D: Movement disorder
DISX9D54: Tourette syndrome
ICD Code
ICD-11
ICD-11: 8A05.00
ICD-10
ICD-10: F95.2
Expand ICD-11
'8A05.00
Expand ICD-10
'F95.2
Disease Identifiers
MONDO ID
MONDO_0007661
MESH ID
D005879
UMLS CUI
C0040517
OMIM ID
137580
MedGen ID
21219
Orphanet ID
856
SNOMED CT ID
5158005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 3 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Haloperidol DM96SE0 Approved Small molecular drug [1]
Pimozide DMW83TP Approved Small molecular drug [2]
Ingrezza DMVPLNC Phase 4 Small molecular drug [3]
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This Disease is Treated as An Indication in 7 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Ecopipam DMS9R43 Phase 3 Small molecular drug [4]
Meningococcal vaccine groups A,C,Y,W-135 conjugate DMEEDUK Phase 3 NA [5]
NBI-98854 DMVO1C0 Phase 3 Small molecular drug [4]
THX-TS01 DM3DG5C Phase 3 NA [4]
CPP-115 DMK9NQI Phase 2 Small molecular drug [4]
Ecopipam hydrochloride DMNV9TH Phase 2 NA [6]
ABX-1431 DM9SYVJ Phase 1 NA [4]
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⏷ Show the Full List of 7 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 124 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UBAP1 OTTW6B2G No Known Unknown [7]
UNKL OTYN8S27 No Known Unknown [7]
USP1 OTKXT1D7 No Known Unknown [7]
WNT7B OTF5JBMW No Known Unknown [7]
ZC3H7A OT2ZU1WI No Known Unknown [7]
ZNF112 OT9HTNCA No Known Unknown [7]
ZNF23 OTCQUB11 No Known Unknown [8]
ZNF37A OTDVUUN0 No Known Unknown [8]
ZNF385A OTM8CHUL No Known Unknown [7]
ZNF799 OTAVJ57Y No Known Unknown [8]
AADAC OT8VACT2 No Known Unknown [37]
ARL8A OTEYM6FA No Known Unknown [7]
ATL2 OT93AUOO No Known Unknown [7]
CCDC7 OTNCL9JR No Known Unknown [7]
CDK12 OTZUDGNU No Known Unknown [9]
COL24A1 OT2ZN672 No Known Unknown [7]
COLGALT2 OTV9EDZB No Known Unknown [7]
CPEB3 OTP1GQCH No Known Unknown [7]
DBX1 OTEBZXLT No Known Unknown [7]
DENND5A OT0QNNY1 No Known Unknown [8]
ETS1 OT4LVGDN No Known Unknown [7]
EVPL OTZIAFEK No Known Unknown [7]
FBXO15 OTJHEFE5 No Known Unknown [38]
FPR1 OTFF9I6W No Known Unknown [7]
GARIN4 OTQL4PP9 No Known Unknown [7]
GK2 OT0JGZPO No Known Unknown [7]
GOPC OTRBGH71 No Known Unknown [8]
HDAC5 OTWG387P No Known Unknown [7]
HEPACAM2 OTQ90IG5 No Known Unknown [7]
ITPKB OTSVVPAV No Known Unknown [8]
KBTBD8 OTO8X1UF No Known Unknown [7]
KDM5B OT5DL94T No Known Unknown [7]
KLHL9 OTRGEG3Z No Known Unknown [39]
LCN12 OTHCV4G8 No Known Unknown [7]
LLGL1 OTAIQSXZ No Known Unknown [7]
LRP8 OTZ71YV2 No Known Unknown [7]
LSM11 OTN9M7QG No Known Unknown [7]
LYPD6 OTT45DF7 No Known Unknown [40]
ME2 OTO4LL76 No Known Unknown [7]
MGAM OTVLMDUE No Known Unknown [7]
MX2 OT05NF37 No Known Unknown [7]
NLRP11 OTAL4ADW No Known Unknown [7]
NMRK1 OT0STQLV No Known Unknown [7]
NUP85 OTB5ZHC8 No Known Unknown [8]
OR4M1 OTLGJKFF No Known Unknown [7]
OR9I1 OTZP1O8O No Known Unknown [7]
PDP1 OT82RTMT No Known Unknown [7]
POM121L12 OTYUXICC No Known Unknown [41]
PPWD1 OTA7CG42 No Known Unknown [8]
RFWD3 OTDUULBQ No Known Unknown [7]
RICTOR OTCC58QJ No Known Unknown [10]
STRIP2 OTQLZ6Z7 No Known Unknown [10]
SYNDIG1 OT8P9T93 No Known Unknown [7]
THBS3 OTDKMUBD No Known Unknown [7]
TIGD2 OTRXGZ1X No Known Unknown [7]
TNPO1 OT7W2CM8 No Known Unknown [7]
TP53BP2 OTOWJ2Y4 No Known Unknown [8]
TPX2 OTWLJYH0 No Known Unknown [8]
ADAMTS6 OTSZE6L4 Limited Unknown [7]
ADD2 OTRCPCD2 Limited Biomarker [42]
AGPAT5 OTNY3VMD Limited Unknown [7]
ANK3 OTJ3IRBP Limited Unknown [7]
CD8A OTDWQJXK Limited Biomarker [43]
CNTN6 OTXVGVOR Limited Unknown [44]
CSNK1G3 OTN1GGCN Limited Unknown [8]
FAM120A OTLAG3VN Limited Unknown [7]
FSCB OTTHS17E Limited Unknown [45]
GLIS3 OTBC960E Limited Unknown [7]
GRHL3 OT1V4ZEH Limited Biomarker [46]
HDC OT4WA5YQ Limited Autosomal dominant [11]
HEXD OTTMQKLM Limited Biomarker [47]
HMGXB3 OTTZ1AS6 Limited Unknown [8]
HNRNPA0 OTCP792K Limited Unknown [48]
ING2 OT6H0EWF Limited Biomarker [43]
NCBP1 OTYBR927 Limited Unknown [7]
PABPC5 OTLUTQ02 Limited Unknown [49]
PEX13 OTXUAYEW Limited Genetic Variation [50]
PNKD OT6G9UXN Limited Autosomal dominant [51]
RACK1 OTZBCQ1U Limited Unknown [7]
RPGRIP1L OT6Z069I Limited Biomarker [52]
SHOX OTE0YZJO Limited Biomarker [53]
SLITRK1 OT1QQ7FR Limited Autosomal dominant [11]
SPRY2 OTH0CRCZ Limited Unknown [7]
TESC OTI8C76M Limited Genetic Variation [54]
TLN2 OT10QQBC Limited Unknown [7]
COL27A1 OTQ5VDRH moderate Genetic Variation [55]
CSMD3 OTAT75SW moderate Genetic Variation [13]
LMO3 OTR7AJHN moderate Genetic Variation [13]
SGCE OT9F17JB moderate Genetic Variation [34]
ACP1 OTJ9CKLU Strong Genetic Variation [56]
ALG9 OT5V9PIR Strong Genetic Variation [57]
AMELX OTIN26MM Strong Biomarker [58]
ANKK1 OT0OM1O0 Strong Genetic Variation [59]
APBA2 OTXD8ID1 Strong Biomarker [60]
ASH1L OTUT5NLJ Strong Biomarker [61]
BTBD9 OTWQ6GA3 Strong Genetic Variation [62]
CBLN2 OT29SSBE Strong Biomarker [63]
CCT6A OTCYWL5F Strong Biomarker [64]
CELSR3 OT8P6QNJ Strong Genetic Variation [65]
CHD2 OTRKL6YC Strong Biomarker [66]
CHPT1 OT4FJ0K3 Strong Biomarker [67]
CNTNAP2 OT48T2ZP Strong Biomarker [68]
COBLL1 OTQFN1TC Strong Biomarker [28]
COL8A1 OTWBTED2 Strong Genetic Variation [69]
DHDDS OTVLYBUS Strong Biomarker [67]
DLGAP3 OT0GR2F6 Strong Biomarker [70]
DPP6 OTWW3H0K Strong Biomarker [71]
EEF1A2 OT9Z23K5 Strong Biomarker [72]
GPC5 OT8NR7GC Strong Genetic Variation [36]
IMMP2L OT9WGAFD Strong Genetic Variation [73]
LHX6 OT47UQZ5 Strong Altered Expression [74]
LHX8 OT0DFL7C Strong Altered Expression [74]
MCF2L OTEURA8N Strong Biomarker [25]
MEIS1 OTH9DKAD Strong Genetic Variation [26]
NLGN4X OTDJGBK8 Strong Genetic Variation [75]
NRXN1 OTJN1JQA Strong Genetic Variation [44]
NTN4 OTDRRMP3 Strong Biomarker [76]
OLFM1 OTOYPEWW Strong Biomarker [77]
OLIG1 OTIMFI31 Strong Biomarker [78]
OLIG2 OTMCN6D3 Strong Biomarker [78]
PSD4 OTEFB87Z Strong Biomarker [79]
SMN2 OT54RLO1 Strong Biomarker [32]
NECTIN1 OTTE5ZR6 Definitive Genetic Variation [80]
POU1F1 OTXT8A5C Definitive Genetic Variation [80]
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⏷ Show the Full List of 124 DOT(s)
This Disease Is Related to 38 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDK12 TTJ21A9 No Known Unknown [9]
ETS1 TTTGPSD No Known Unknown [7]
FPR1 TT5Y4EM No Known Unknown [7]
HDAC5 TTUELN5 No Known Unknown [7]
KDM5B TTCLI75 No Known Unknown [7]
MGAM TTXWASR No Known Unknown [7]
RICTOR TT143WL No Known Unknown [10]
TPX2 TT0PHL4 No Known Unknown [8]
USP1 TTG9MT5 No Known Unknown [7]
CSNK1G3 TT34L5N Limited Unknown [8]
HDC TTV9GOF Limited Autosomal dominant [11]
KCNK9 TTL4FMB Limited Genetic Variation [12]
RACK1 TTJ10AL Limited Unknown [7]
FLT3 TTGJCWZ moderate Genetic Variation [13]
FPR3 TT16TM5 moderate Genetic Variation [13]
ADORA1 TTK25J1 Strong Genetic Variation [14]
ADRA2A TTWG9A4 Strong Biomarker [15]
CHAT TTKYFSB Strong Biomarker [16]
CHM TTOA18V Strong Genetic Variation [17]
DBH TTYIP79 Strong Genetic Variation [18]
DRD5 TTS2PH3 Strong Genetic Variation [19]
HMBS TTT0HW3 Strong Genetic Variation [20]
HTR2C TTWJBZ5 Strong Genetic Variation [21]
HTR7 TTO9X1H Strong Genetic Variation [22]
KCNJ5 TTEO25X Strong Biomarker [23]
LCT TTA0OSE Strong Genetic Variation [24]
LRP2 TTPH1AJ Strong Biomarker [25]
MAP2K5 TTV3O87 Strong Genetic Variation [26]
ROBO4 TT3S9TY Strong Genetic Variation [27]
SCN2A TTLJTUF Strong Genetic Variation [28]
SCN3A TTAXZ0K Strong Genetic Variation [28]
SLC1A1 TTG2A6F Strong Genetic Variation [29]
SLC1A3 TT8WRDA Strong Altered Expression [30]
SLC5A7 TTRV7W3 Strong Biomarker [31]
SMN1 TT8QL6X Strong Biomarker [32]
TDP1 TT64IHJ Strong Biomarker [33]
TOR1A TTF85KW Strong Genetic Variation [34]
TPH2 TT3KLDP Strong Genetic Variation [35]
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⏷ Show the Full List of 38 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC17A7 DTNK0FR Strong Altered Expression [30]
SLC4A10 DT7RYVF Strong Genetic Variation [36]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
COLGALT2 DE8RIZD No Known Unknown [7]
NMRK1 DENV24I No Known Unknown [7]
MGST1 DEAPJSO moderate Genetic Variation [13]
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References

1 Haloperidol FDA Label
2 Pimozide FDA Label
3 ClinicalTrials.gov (NCT03732534) Rollover Study for Continuing NBI-98854 Administration in Pediatric Subjects With Tourette Syndrome. U.S. National Institutes of Health.
4 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
5 Clinical pipeline report, company report or official report of GlaxoSmithKline.
6 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
7 De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 2017 May 3;94(3):486-499.e9. doi: 10.1016/j.neuron.2017.04.024.
8 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
9 The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent. Front Oncol. 2018 Oct 2;8:421. doi: 10.3389/fonc.2018.00421. eCollection 2018.
10 Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):712-723. doi: 10.1002/ajmg.b.32559. Epub 2017 Jun 13.
11 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
12 Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.Am J Med Genet B Neuropsychiatr Genet. 2014 Sep;165B(6):472-8. doi: 10.1002/ajmg.b.32250. Epub 2014 Jul 1.
13 Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.Am J Psychiatry. 2019 Mar 1;176(3):217-227. doi: 10.1176/appi.ajp.2018.18070857.
14 Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.PLoS One. 2015 Aug 28;10(8):e0136754. doi: 10.1371/journal.pone.0136754. eCollection 2015.
15 The alpha 2A-adrenergic receptor gene polymorphism modifies antidepressant responses to milnacipran.J Clin Psychopharmacol. 2008 Oct;28(5):518-24. doi: 10.1097/JCP.0b013e31818455fc.
16 Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.World J Biol Psychiatry. 2018 Oct;19(7):521-526. doi: 10.1080/15622975.2017.1282176. Epub 2017 Feb 14.
17 Association between restless legs syndrome and other movement disorders.Neurology. 2019 May 14;92(20):948-964. doi: 10.1212/WNL.0000000000007500. Epub 2019 Apr 19.
18 Analysis of the dopamine beta hydroxylase gene in Gilles de la Tourette syndrome.Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):673-7. doi: 10.1002/ajmg.b.30393.
19 Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome.Am J Med Genet. 1997 Feb 21;74(1):58-61.
20 Gilles de la Tourette syndrome is not linked to D2-dopamine receptor.Arch Gen Psychiatry. 1990 Nov;47(11):1073-7. doi: 10.1001/archpsyc.1990.01810230089014.
21 Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.Psychiatr Genet. 2012 Dec;22(6):300-3. doi: 10.1097/YPG.0b013e32835862b1.
22 Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome.Genomics. 1995 Mar 20;26(2):207-9. doi: 10.1016/0888-7543(95)80202-w.
23 Association of the KCNJ5 gene with Tourette Syndrome and Attention-Deficit/Hyperactivity Disorder.Genes Brain Behav. 2014 Jul;13(6):535-42. doi: 10.1111/gbb.12141. Epub 2014 Jun 19.
24 Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder.Mov Disord. 2013 Aug;28(9):1263-70. doi: 10.1002/mds.25460. Epub 2013 Apr 29.
25 Pallidal deep brain stimulation combined with capsulotomy for Tourette's syndrome with psychiatric comorbidity.J Neurosurg. 2019 Jan 4;131(6):1788-1796. doi: 10.3171/2018.8.JNS181339.
26 Association of intronic variants of the BTBD9 gene with Tourette syndrome.Arch Neurol. 2009 Oct;66(10):1267-72. doi: 10.1001/archneurol.2009.213.
27 Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region.Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):68-72. doi: 10.1002/ajmg.b.30580.
28 Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.BMC Psychiatry. 2018 Aug 2;18(1):248. doi: 10.1186/s12888-018-1822-8.
29 Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.Eur Arch Psychiatry Clin Neurosci. 2018 Apr;268(3):301-316. doi: 10.1007/s00406-017-0808-8. Epub 2017 May 29.
30 Jian-Pi-Zhi-Dong-Decoction regulates the expression of glutamate transporters to attenuate glutamate excitotoxicity and exerts anti-tics effects in Tourette syndrome model rats.Neuropsychiatr Dis Treat. 2018 Dec 17;14:3381-3392. doi: 10.2147/NDT.S185169. eCollection 2018.
31 Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population.Neurosci Lett. 2017 Sep 29;658:161-164. doi: 10.1016/j.neulet.2017.08.041. Epub 2017 Aug 19.
32 Centrality of prefrontal and motor preparation cortices to Tourette Syndrome revealed by meta-analysis of task-based neuroimaging studies.Neuroimage Clin. 2017 Aug 3;16:257-267. doi: 10.1016/j.nicl.2017.08.004. eCollection 2017.
33 Association of tyrosyl-DNA phosphodiesterase 1 polymorphism with Tourette syndrome in Taiwanese patients.J Clin Lab Anal. 2013 Jul;27(4):323-7. doi: 10.1002/jcla.21606.
34 Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.Mov Disord. 2007 Oct 31;22(14):2090-6. doi: 10.1002/mds.21674.
35 Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome.Mol Psychiatry. 2007 Jul;12(7):617-9. doi: 10.1038/sj.mp.4002004.
36 Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5.
37 De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. Eur J Hum Genet. 2019 Jul;27(7):1121-1133. doi: 10.1038/s41431-019-0376-7. Epub 2019 Mar 18.
38 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
39 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.
40 [Phenotypic and genotypic analysis of a girl carrying a 2q22.3 microduplication encompassing the MBD5 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):624-627. doi: 10.3760/cma.j.issn.1003-9406.2019.06.024.
41 Benzodiazepine interactions with GABAA receptors on chick ciliary ganglion neurons. Mol Pharmacol. 1988 Aug;34(2):129-35.
42 A controlled study of Tourette syndrome. I. Attention-deficit disorder, learning disorders, and school problems.Am J Hum Genet. 1987 Nov;41(5):701-41.
43 Tactile stimulation partially prevents neurodevelopmental changes in visual tract caused by early iron deficiency.Brain Res. 2017 Feb 15;1657:130-139. doi: 10.1016/j.brainres.2016.12.003. Epub 2016 Dec 9.
44 Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron. 2017 Jun 21;94(6):1101-1111.e7. doi: 10.1016/j.neuron.2017.06.010.
45 Tourette syndrome is associated with recurrent exonic copy number variants. Neurology. 2010 May 18;74(20):1583-90. doi: 10.1212/WNL.0b013e3181e0f147. Epub 2010 Apr 28.
46 Improved crop yield and reduced nitrate nitrogen leaching with straw return in a rice-wheat rotation of Ningxia irrigation district.Sci Rep. 2018 Jun 21;8(1):9458. doi: 10.1038/s41598-018-27776-5.
47 Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy.J Biol Chem. 2002 Jun 7;277(23):20177-84. doi: 10.1074/jbc.M106164200. Epub 2002 Mar 28.
48 De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.
49 Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):825-31. doi: 10.1002/ajmg.b.32186. Epub 2013 Jul 27.
50 Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.Pediatr Res. 2005 Aug;58(2):263-9. doi: 10.1203/01.PDR.0000169984.89199.69. Epub 2005 Jul 8.
51 The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Mol Psychiatry. 2018 Jun;23(6):1487-1495. doi: 10.1038/mp.2017.179. Epub 2017 Sep 12.
52 Nipple-Areolar Complex Position in Female-to-Male Transsexuals After Non-skin-excisional Mastectomy: A Case-Control Study in Japan.Aesthetic Plast Surg. 2019 Oct;43(5):1195-1203. doi: 10.1007/s00266-019-01409-2. Epub 2019 May 29.
53 Phenotypes Associated with SHOX Deficiency.J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80. doi: 10.1210/jcem.86.12.8125.
54 Inhibition of ERK1/2 Restores GSK3 Activity and Protein Synthesis Levels in a Model of Tuberous Sclerosis.Sci Rep. 2017 Jun 23;7(1):4174. doi: 10.1038/s41598-017-04528-5.
55 Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.Sci Rep. 2015 Aug 3;5:12687. doi: 10.1038/srep12687.
56 Association between the low molecular weight cytosolic acid phosphatase gene ACP1*A and comorbid features of Tourette syndrome.Neurosci Lett. 2002 Sep 20;330(2):198-200. doi: 10.1016/s0304-3940(02)00750-4.
57 A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.Neurogenetics. 2002 Mar;4(1):43-53. doi: 10.1007/s10048-001-0129-x.
58 Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR.J Biochem Biophys Methods. 2004 Aug 31;60(2):151-62. doi: 10.1016/j.jbbm.2004.05.004.
59 Association between DRD2/ANKK1 TaqIA Polymorphism and Susceptibility with Tourette Syndrome: A Meta-Analysis.PLoS One. 2015 Jun 25;10(6):e0131060. doi: 10.1371/journal.pone.0131060. eCollection 2015.
60 Gene expression changes in peripheral blood from Chinese Han patients with Tourette syndrome.Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):977-80. doi: 10.1002/ajmg.b.32103. Epub 2012 Oct 17.
61 Mutations in ASH1L confer susceptibility to Tourette syndrome.Mol Psychiatry. 2020 Feb;25(2):476-490. doi: 10.1038/s41380-019-0560-8. Epub 2019 Oct 31.
62 The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.Acta Neurobiol Exp (Wars). 2014;74(2):218-26. doi: 10.55782/ane-2014-1987.
63 Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.Transl Psychiatry. 2012 Sep 4;2(9):e158. doi: 10.1038/tp.2012.75.
64 There is no evidence for an association between the serotonin receptor 3A gene C178T polymorphism and tardive dyskinesia in Korean schizophrenia patients.Nord J Psychiatry. 2013 Jun;67(3):214-8. doi: 10.3109/08039488.2012.732114. Epub 2012 Nov 6.
65 De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082.
66 CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.
67 The 5 choice continuous performance test (5C-CPT): A novel tool to assess cognitive control across species.J Neurosci Methods. 2017 Dec 1;292:53-60. doi: 10.1016/j.jneumeth.2017.07.011. Epub 2017 Jul 25.
68 Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.Neurogenetics. 2010 Feb;11(1):81-9. doi: 10.1007/s10048-009-0205-1. Epub 2009 Jul 7.
69 CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.PLoS One. 2013;8(3):e59061. doi: 10.1371/journal.pone.0059061. Epub 2013 Mar 22.
70 Family-based genetic association study of DLGAP3 in Tourette Syndrome.Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):108-14. doi: 10.1002/ajmg.b.31134. Epub 2010 Nov 2.
71 DPP6 gene disruption in a family with Gilles de la Tourette syndrome.Neurogenetics. 2014 Oct;15(4):237-42. doi: 10.1007/s10048-014-0418-9. Epub 2014 Aug 17.
72 Deep brain stimulation modulates pallidal and subthalamic neural oscillations in Tourette's syndrome.Brain Behav. 2019 Dec;9(12):e01450. doi: 10.1002/brb3.1450. Epub 2019 Oct 24.
73 First behavioural assessment of a novel Immp2l knockdown mouse model with relevance for Gilles de la Tourette syndrome and Autism spectrum disorder.Behav Brain Res. 2019 Nov 18;374:112057. doi: 10.1016/j.bbr.2019.112057. Epub 2019 Jun 21.
74 Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome.Genes Brain Behav. 2012 Jun;11(4):444-51. doi: 10.1111/j.1601-183X.2012.00778.x. Epub 2012 Apr 11.
75 Familial deletion within NLGN4 associated with autism and Tourette syndrome.Eur J Hum Genet. 2008 May;16(5):614-8. doi: 10.1038/sj.ejhg.5202006. Epub 2008 Jan 30.
76 Genetic association signal near NTN4 in Tourette syndrome.Ann Neurol. 2014 Aug;76(2):310-5. doi: 10.1002/ana.24215. Epub 2014 Jul 21.
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