General Information of Disease (ID: DISOJJ2D)

Disease Name Movement disorder
Synonyms movement disorders; movement disease; movement disorder
Disease Class 8A07-8A0Z: Movement disorder
Definition Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.
Disease Hierarchy
DISWD40R: Disease
DISCFBRD: Neurological disorder
DISOJJ2D: Movement disorder
ICD Code
ICD-11
ICD-11: 8A07-8A0Z
ICD-10
ICD-10: G20-G26
Expand ICD-11
'8A0Z
Expand ICD-10
'G20-G26; 'G25; 'G25.8; 'G25.9; 'G26
Disease Identifiers
MONDO ID
MONDO_0005395
MESH ID
D009069
UMLS CUI
C0026650
MedGen ID
10113
HPO ID
HP:0100022
SNOMED CT ID
60342002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
NBI-98854 DMVO1C0 Phase 3 Small molecular drug [1]
MRZ-8456 DMQBZK4 Phase 1 NA [2]
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This Disease is Treated as An Indication in 1 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AST-915 DMJEQA8 Discontinued in Phase 1/2 NA [3]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
ADC-5510 DMV761D Investigative NA [4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 80 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DRD3 TT4C8EA Limited Biomarker [5]
FOLR1 TTVC37M Limited Genetic Variation [6]
GAP43 TTSGLN5 Limited Altered Expression [7]
GBA TT1B5PU Limited Genetic Variation [8]
HTR2C TTWJBZ5 Limited Genetic Variation [9]
HTT TTIWZ0O Limited Biomarker [10]
KCNQ2 TTPXI3S Limited Genetic Variation [11]
LRRK2 TTK0FEA Limited Biomarker [12]
MECP2 TTTAU9R Limited Genetic Variation [13]
OPRM1 TTKWM86 Limited Biomarker [14]
SLC2A1 TT79TKF Limited Genetic Variation [15]
TH TTUHP71 Limited CausalMutation [16]
ADCY5 TTN64VU moderate Biomarker [17]
ALDH5A1 TTJUWVB moderate CausalMutation [18]
CACNA1A TTX4QDJ moderate CausalMutation [19]
CBL TT7QT13 moderate CausalMutation [20]
CSF1R TT7MRDV moderate CausalMutation [21]
CYP21A2 TTP4GLG moderate CausalMutation [22]
FUS TTKGYZ9 moderate CausalMutation [23]
GABRA2 TTBMV1G moderate Genetic Variation [24]
GABRG2 TT06RH5 moderate Genetic Variation [24]
GAN TT6WNG2 moderate CausalMutation [25]
GCH1 TTLSWP6 moderate Biomarker [26]
GJB1 TTSJIRP moderate CausalMutation [27]
GJC2 TTPOCAL moderate Genetic Variation [28]
GRIA4 TTPJR0G moderate Genetic Variation [29]
HEXA TTJI5JW moderate Genetic Variation [30]
ITPR1 TT5HWAT moderate Genetic Variation [31]
KMT2A TT1GNDM moderate CausalMutation [32]
MAN2B1 TTC12RO moderate CausalMutation [33]
OPA1 TTTU49Q moderate CausalMutation [34]
PNKP TTHR3IE moderate CausalMutation [35]
PRNP TTY5F9C moderate CausalMutation [36]
RICTOR TT143WL moderate Genetic Variation [37]
RYR1 TTU5CIX moderate Genetic Variation [38]
SCN2A TTLJTUF moderate Genetic Variation [39]
SERPINA1 TTA7UJC moderate CausalMutation [40]
TOR1A TTF85KW moderate Biomarker [41]
UBE3A TTUZX6V moderate CausalMutation [42]
ACHE TT1RS9F Strong Biomarker [43]
ACO2 TTMTF2P Strong Genetic Variation [44]
ADORA2A TTM2AOE Strong Biomarker [45]
ATP1A2 TT5B6HJ Strong CausalMutation [46]
ATXN3 TT6A17J Strong Biomarker [47]
C9orf72 TTA4SHR Strong Biomarker [48]
CACNA1B TT4FDG6 Strong Biomarker [49]
CACNA1D TT7RGTM Strong Genetic Variation [50]
CNR1 TT6OEDT Strong Therapeutic [51]
COL6A3 TT5WCAH Strong Genetic Variation [52]
CRH TTA7YIZ Strong Biomarker [53]
DNMT3A TTJUALD Strong CausalMutation [54]
DRD1 TTZFYLI Strong Biomarker [55]
DRD2 TTEX248 Strong Genetic Variation [56]
EP300 TTGH73N Strong Genetic Variation [57]
FGF14 TTKJX1V Strong Genetic Variation [58]
G6PD TTKN8W0 Strong CausalMutation [59]
GRIA2 TTWM461 Strong Biomarker [60]
GRIN1 TTLD29N Strong Genetic Variation [61]
GRM2 TTXJ47W Strong Biomarker [60]
HDAC3 TT4YWTO Strong Genetic Variation [62]
HNMT TT2B6EV Strong Genetic Variation [63]
KCNJ6 TTTIBVP Strong Genetic Variation [64]
KCNN2 TT2T5M0 Strong Genetic Variation [65]
KCNT1 TTGJFK1 Strong Genetic Variation [66]
KDM5C TT94UCF Strong CausalMutation [67]
LINGO1 TTZYQ80 Strong Biomarker [68]
MOG TTQAFX5 Strong Biomarker [69]
NRG1 TTEH395 Strong Biomarker [70]
PDE10A TTJW4LU Strong Biomarker [71]
RARB TTISP28 Strong CausalMutation [72]
SCN1A TTANOZH Strong Genetic Variation [73]
SGCA TTS9Q5V Strong Biomarker [74]
SGSH TTPJ2SH Strong CausalMutation [75]
SLC18A2 TTNZRI3 Strong Biomarker [76]
SLC52A2 TT6TKEN Strong CausalMutation [77]
SLC6A3 TTVBI8W Strong Biomarker [78]
SLC6A5 TTI0138 Strong Biomarker [79]
UTS2 TTERU0T Strong Biomarker [80]
GNAO1 TTAXD8Z Definitive Biomarker [81]
KCNA2 TTVFB0O Definitive Genetic Variation [82]
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⏷ Show the Full List of 80 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A14 DTZ6IJW Limited Genetic Variation [83]
SLC26A2 DTFSLX5 moderate CausalMutation [84]
SLC12A2 DTHKL3Q Strong Biomarker [85]
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This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HPRT1 DEVXTP5 Disputed Genetic Variation [86]
CYB5R3 DE4A3BL moderate Biomarker [87]
DHCR7 DEL7GFA moderate CausalMutation [88]
PMM2 DEBRX3L moderate Genetic Variation [89]
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This Disease Is Related to 155 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASIC4 OT5POMCQ Limited Genetic Variation [90]
ASXL1 OTX931AW Limited Biomarker [91]
ATL1 OTR2788Y Limited Genetic Variation [92]
CUL4B OT2QX4DO Limited CausalMutation [93]
DOCK3 OTF3YS2W Limited Genetic Variation [94]
EBF3 OTB0IWLW Limited Genetic Variation [95]
GPT2 OTS5VF7N Limited CausalMutation [96]
MYO5A OTMWLP3E Limited Genetic Variation [97]
NAXE OTRZPISQ Limited Genetic Variation [98]
NKX2-1 OTCMEJTA Limited CausalMutation [99]
OPA3 OT6NDC1M Limited Genetic Variation [100]
PPP1R1B OTSIJMQ9 Limited Genetic Variation [101]
RIC3 OTDCM6GS Limited Autosomal recessive [102]
SACS OTZGXQ8A Limited CausalMutation [103]
SNCB OTELSEK6 Limited Biomarker [104]
SPG7 OT8OY9ST Limited CausalMutation [105]
TLE1 OT50MRZ1 Limited Autosomal recessive [102]
ADAR OTQNOHR8 moderate CausalMutation [106]
ATP1A3 OTM8EG6H moderate Genetic Variation [107]
ATRX OT77RSQW moderate CausalMutation [108]
ATXN7 OTL3YF1H moderate Biomarker [109]
BCAP31 OTKSACR4 moderate Biomarker [110]
BCS1L OT5PY5CY moderate Genetic Variation [111]
CASK OT8EF7ZF moderate CausalMutation [112]
CCN6 OTRFHQ2Z moderate CausalMutation [113]
CCND2 OTDULQF9 moderate Genetic Variation [114]
CHD7 OTHNIZWZ moderate CausalMutation [115]
CLN8 OT0D4CB5 moderate CausalMutation [116]
COL4A1 OTL6D1YE moderate Genetic Variation [117]
CSTB OT3U0JF8 moderate CausalMutation [118]
CTBP1 OTVYH2DH moderate CausalMutation [119]
DDX3X OTDO4TRX moderate Genetic Variation [120]
DLG3 OTH591WK moderate CausalMutation [121]
EIF2B5 OTV3R4RB moderate CausalMutation [122]
FLG OTE9QDV6 moderate CausalMutation [123]
FLVCR1 OT9XCFOC moderate Genetic Variation [124]
GABRB3 OT80C3D4 moderate Genetic Variation [125]
GATAD2B OTJL128N moderate CausalMutation [126]
HARS1 OTHOEOTS moderate Genetic Variation [127]
HIKESHI OTPKV3UZ moderate Genetic Variation [128]
KIF1A OT3JVEGV moderate Genetic Variation [129]
KMT2D OTTVHCLY moderate CausalMutation [130]
MED13L OTSP1W0F moderate Genetic Variation [131]
MEF2C OTZGF1Y5 moderate CausalMutation [132]
MMACHC OTX0TT3W moderate CausalMutation [133]
MRPS22 OTIVNAJL moderate CausalMutation [134]
NFIA OTDHQ9CG moderate CausalMutation [135]
NGLY1 OTZBQD5Q moderate CausalMutation [136]
NPC1 OTRIPICX moderate Genetic Variation [137]
NUBPL OTQMCSXT moderate CausalMutation [138]
OFD1 OTAZW5TK moderate CausalMutation [139]
PDE6A OTPUTR2K moderate CausalMutation [140]
PDHA1 OTGEU8IK moderate Genetic Variation [141]
PGAP3 OTH9A75E moderate CausalMutation [142]
PIGN OTHHTJKX moderate CausalMutation [143]
PMPCA OT5X1G9Q moderate Genetic Variation [144]
POGZ OT4CYWC1 moderate CausalMutation [145]
PRKRA OTUTVZZU moderate Genetic Variation [146]
PRRT2 OTCJUBDO moderate Biomarker [147]
PSAP OTUOEKY7 moderate CausalMutation [148]
PTCHD1 OTFDLU5S moderate CausalMutation [149]
PURA OT975ELW moderate CausalMutation [150]
RBBP6 OTTVG4HU moderate Genetic Variation [146]
RBFOX2 OTXY1WVH moderate CausalMutation [151]
SATB2 OT2W80XC moderate Genetic Variation [152]
SH3TC2 OTJ6XY2A moderate CausalMutation [153]
SMARCA2 OTSGJ8SV moderate CausalMutation [154]
STX1B OTSW59X0 moderate Genetic Variation [155]
STXBP1 OTRYA8C3 moderate CausalMutation [156]
SYNGAP1 OT41HVYQ moderate CausalMutation [157]
TCF4 OTB9ASTK moderate CausalMutation [158]
THAP1 OTIWUSON moderate Genetic Variation [159]
TMPRSS3 OT0GTO1Z moderate CausalMutation [160]
TRAK1 OTMQVYNP moderate Genetic Variation [161]
ADGRG1 OTQBB8NT Strong CausalMutation [162]
ADNP OTEGICWR Strong CausalMutation [163]
ALS2 OT8BAM04 Strong Biomarker [164]
ANO3 OTM34U6Q Strong Genetic Variation [165]
AP4M1 OT2BG2Z3 Strong CausalMutation [166]
ARC OTN2QQPG Strong Biomarker [167]
ARFGEF2 OTM3CQZT Strong Genetic Variation [168]
ARID1B OTILK3Q7 Strong CausalMutation [169]
ARX OTBGYH25 Strong Genetic Variation [170]
ATP8A2 OTDZC2ZT Strong Genetic Variation [171]
CAMK2A OTJGX19T Strong CausalMutation [172]
CAMK2B OTS9YK3E Strong CausalMutation [172]
CARS2 OTGLZOFP Strong Genetic Variation [173]
CLTC OTBFASMA Strong Genetic Variation [174]
CP OTM8JE4Y Strong Altered Expression [175]
CTCF OT8ZB70U Strong CausalMutation [174]
CTNND2 OTYKE30Y Strong Genetic Variation [176]
CWF19L1 OTAMYTOW Strong Genetic Variation [177]
DNAJC5 OTCZDXAL Strong Biomarker [178]
ECEL1 OTJ6GNUP Strong Biomarker [179]
EMC1 OTYAH4LX Strong Genetic Variation [180]
ERCC6 OT2QZKSF Strong CausalMutation [181]
EXOC6B OTFI1IPG Strong Genetic Variation [182]
EYA4 OTINGR3Z Strong CausalMutation [183]
FA2H OT8HA13U Strong Genetic Variation [184]
FMR1 OTWEV0T5 Strong Genetic Variation [185]
FOSB OTW6C05J Strong Biomarker [186]
FOXG1 OTAW57J4 Strong Biomarker [187]
FTL OTYQA8A6 Strong Biomarker [188]
FTMT OTIUX6XG Strong Biomarker [189]
GCDH OTVQMZZN Strong Genetic Variation [190]
GLUD1 OTXKOCUH Strong Altered Expression [191]
GNAL OTESDTEU Strong Genetic Variation [192]
GOPC OTRBGH71 Strong Genetic Variation [193]
GOSR2 OTYHIYN2 Strong Genetic Variation [194]
HTRA2 OTC7616F Strong Biomarker [195]
IGFALS OTTWCZYM Strong Genetic Variation [196]
IGLON5 OTB94PY2 Strong Biomarker [197]
IREB2 OT747D24 Strong Biomarker [198]
JPH3 OTHTJO2I Strong Biomarker [199]
KCTD7 OTRU3EOK Strong Genetic Variation [200]
KMT2B OTMMAZQX Strong CausalMutation [201]
LAMA1 OTQZMP86 Strong CausalMutation [202]
LGI1 OTPS77HO Strong Biomarker [203]
MICU1 OTS7N0LE Strong Genetic Variation [204]
MPZ OTAR2YXH Strong Genetic Variation [205]
NDUFAF6 OTRJMIGT Strong CausalMutation [206]
NIF3L1 OT4MP90J Strong Genetic Variation [207]
NRTN OT4PAKUY Strong Biomarker [208]
PANK2 OTFBW889 Strong Biomarker [209]
PDC OT1UUVYY Strong Genetic Variation [210]
PDE8B OT4217NK Strong Genetic Variation [211]
PDSS2 OTEOQBMX Strong Biomarker [212]
PDYN OTEJ6430 Strong Biomarker [167]
PINK1 OT50NR57 Strong Biomarker [213]
PLPBP OT9DZ8P6 Strong Genetic Variation [214]
PNKD OT6G9UXN Strong Genetic Variation [215]
POLR3H OT7GM7MX Strong CausalMutation [44]
PTPN5 OT2H1KDK Strong Genetic Variation [216]
RHOBTB2 OT2DATFX Strong Genetic Variation [217]
RNF216 OTR1XEZ3 Strong Biomarker [218]
SETX OTG3JNOQ Strong Genetic Variation [219]
SGCE OT9F17JB Strong Genetic Variation [220]
SIL1 OTDI85I5 Strong Biomarker [221]
SMC1A OT9ZMRK9 Strong Genetic Variation [222]
SON OT9VWV18 Strong Genetic Variation [223]
SPAST OTIF3AJI Strong Genetic Variation [224]
STOM OTC8R6EH Strong Genetic Variation [225]
STUB1 OTSUYI9A Strong Biomarker [226]
SUCLA2 OTMZD4PW Strong Genetic Variation [227]
SURF1 OTAINRSS Strong Genetic Variation [228]
TAF1 OTDYS5G4 Strong Genetic Variation [229]
TBC1D24 OTKZUSMD Strong Genetic Variation [230]
TCF20 OT8LQAOV Strong CausalMutation [174]
TMEM67 OTME92T5 Strong CausalMutation [231]
TRAPPC11 OTPZYXGA Strong Genetic Variation [232]
TTBK2 OT90YSM5 Strong Genetic Variation [233]
GNAO1 OTPB1RGK Definitive Autosomal dominant [234]
TSEN2 OT1UWYRI Definitive Biomarker [235]
TSEN34 OTH5FQHP Definitive Biomarker [235]
TSEN54 OT7MR9LY Definitive Biomarker [235]
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⏷ Show the Full List of 155 DOT(s)

References

1 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 8694).
2 Positive results of the phase I study for treatment of late complications in Parkinson's Disease. Merz Pharmaceuticals GmbH und Co. KGaA. 2011-04-01.
3 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800025437)
4 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 319).
5 A common variant in DRD3 receptor is associated with autism spectrum disorder.Biol Psychiatry. 2009 Apr 1;65(7):625-30. doi: 10.1016/j.biopsych.2008.09.035. Epub 2008 Dec 5.
6 Cerebral folate deficiency: Analytical tests and differential diagnosis.J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2.
7 Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.J Neuroimmunol. 2014 Nov 15;276(1-2):18-23. doi: 10.1016/j.jneuroim.2014.07.008. Epub 2014 Jul 23.
8 Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease.JAMA Neurol. 2016 Oct 1;73(10):1217-1224. doi: 10.1001/jamaneurol.2016.2245.
9 Antipsychotic-induced movement disorders in long-stay psychiatric patients and 45 tag SNPs in 7 candidate genes: a prospective study.PLoS One. 2012;7(12):e50970. doi: 10.1371/journal.pone.0050970. Epub 2012 Dec 4.
10 The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.Am J Hum Genet. 2016 Feb 4;98(2):287-98. doi: 10.1016/j.ajhg.2015.12.018.
11 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.Epilepsia. 2017 Jan;58(1):e10-e15. doi: 10.1111/epi.13601. Epub 2016 Nov 9.
12 Crystal structure of the WD40 domain dimer of LRRK2.Proc Natl Acad Sci U S A. 2019 Jan 29;116(5):1579-1584. doi: 10.1073/pnas.1817889116. Epub 2019 Jan 11.
13 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29.
14 Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia.Mov Disord. 2018 Feb;33(2):310-320. doi: 10.1002/mds.27212. Epub 2017 Nov 18.
15 SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.Eur J Paediatr Neurol. 2019 Mar;23(2):329-332. doi: 10.1016/j.ejpn.2018.12.004. Epub 2018 Dec 18.
16 What is new for monoamine neurotransmitter disorders?.J Inherit Metab Dis. 2014 Jul;37(4):619-26. doi: 10.1007/s10545-014-9697-4. Epub 2014 Apr 3.
17 Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28.
18 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.Pediatr Neurol. 2016 May;58:113-5. doi: 10.1016/j.pediatrneurol.2015.10.009. Epub 2015 Nov 14.
19 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul.
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21 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13.
22 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.Clin Endocrinol (Oxf). 2015 Apr;82(4):543-9. doi: 10.1111/cen.12543. Epub 2014 Aug 3.
23 De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.Neurobiol Aging. 2015 Nov;36(11):3117.e1-3117.e6. doi: 10.1016/j.neurobiolaging.2015.08.005. Epub 2015 Aug 15.
24 A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30.
25 Phenotypic variability in giant axonal neuropathy.Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23.
26 A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.J Mol Neurosci. 2019 Jun;68(2):214-220. doi: 10.1007/s12031-019-01301-3. Epub 2019 Mar 25.
27 Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.Neurol Genet. 2017 Jan 5;3(1):e128. doi: 10.1212/NXG.0000000000000128. eCollection 2017 Feb.
28 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.
29 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.Brain Dev. 2016 Mar;38(3):285-92. doi: 10.1016/j.braindev.2015.09.011. Epub 2015 Oct 23.
30 Natural history of infantile G(M2) gangliosidosis.Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.
31 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Eur J Hum Genet. 2017 Jun;25(7):848-853. doi: 10.1038/ejhg.2017.54. Epub 2017 May 10.
32 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.Eur J Med Genet. 2017 Jun;60(6):285-288. doi: 10.1016/j.ejmg.2017.03.006. Epub 2017 Mar 27.
33 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.
34 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.PLoS One. 2017 Aug 25;12(8):e0183866. doi: 10.1371/journal.pone.0183866. eCollection 2017.
35 PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y.
36 Genetic PrP Prion Diseases.Cold Spring Harb Perspect Biol. 2018 May 1;10(5):a033134. doi: 10.1101/cshperspect.a033134.
37 UniProt: a hub for protein information.Nucleic Acids Res. 2015 Jan;43(Database issue):D204-12. doi: 10.1093/nar/gku989. Epub 2014 Oct 27.
38 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.
39 Status dystonicus due to missense variant in ARX: Diagnosis and management.Eur J Paediatr Neurol. 2018 Sep;22(5):862-865. doi: 10.1016/j.ejpn.2018.04.015. Epub 2018 May 3.
40 Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.Hum Mol Genet. 2015 Nov 1;24(21):6254-63. doi: 10.1093/hmg/ddv348. Epub 2015 Aug 26.
41 Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice.Neurobiol Dis. 2020 Feb;134:104638. doi: 10.1016/j.nbd.2019.104638. Epub 2019 Oct 13.
42 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800.
43 Acute effects of copper and mercury on the estuarine fish Pomatoschistus microps: linking biomarkers to behaviour.Chemosphere. 2009 Sep;76(10):1416-27. doi: 10.1016/j.chemosphere.2009.06.005. Epub 2009 Jul 22.
44 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25.
45 Striatal adenosine-cannabinoid receptor interactions in rats over-expressing adenosine A2A receptors.J Neurochem. 2016 Mar;136(5):907-17. doi: 10.1111/jnc.13421. Epub 2015 Nov 24.
46 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.
47 Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).Neurotherapeutics. 2012 Apr;9(2):285-96. doi: 10.1007/s13311-012-0117-x.
48 Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.J Neurol. 2016 Mar;263(3):558-74. doi: 10.1007/s00415-016-8021-7. Epub 2016 Jan 25.
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93 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.
94 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.Am J Med Genet A. 2018 Jan;176(1):241-245. doi: 10.1002/ajmg.a.38517. Epub 2017 Nov 12.
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97 Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.Brain Res. 2018 Jan 15;1679:155-170. doi: 10.1016/j.brainres.2017.11.029. Epub 2017 Dec 5.
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103 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.J Neurol Sci. 2016 Dec 15;371:105-111. doi: 10.1016/j.jns.2016.10.032. Epub 2016 Oct 21.
104 Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies.Genes (Basel). 2018 Jan 25;9(2):63. doi: 10.3390/genes9020063.
105 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.J Pathol. 2017 Sep;243(1):9-15. doi: 10.1002/path.4926. Epub 2017 Jul 25.
106 Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutires Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21.
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113 WISP3 mutation associated with pseudorheumatoid dysplasia.Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a001990. doi: 10.1101/mcs.a001990. Print 2018 Feb.
114 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.Clin Genet. 2018 Mar;93(3):687-692. doi: 10.1111/cge.13145. Epub 2018 Feb 5.
115 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Am J Med Genet A. 2016 Feb;170A(2):344-354. doi: 10.1002/ajmg.a.37435. Epub 2015 Nov 21.
116 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14.
117 High-throughput genetic characterization of a cohort of Brugada syndrome patients.Hum Mol Genet. 2015 Oct 15;24(20):5828-35. doi: 10.1093/hmg/ddv302. Epub 2015 Jul 28.
118 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.Eur J Hum Genet. 2017 Jun;25(6):775-778. doi: 10.1038/ejhg.2017.39. Epub 2017 Apr 5.
119 De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.
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121 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4.
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123 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.
124 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec.
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127 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755.
128 Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.Eur J Hum Genet. 2017 Feb;25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21.
129 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.
130 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.Am J Med Genet A. 2017 Apr;173(4):1115-1118. doi: 10.1002/ajmg.a.38131. Epub 2017 Mar 3.
131 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.
132 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31.
133 MMACHC gene mutation in familial hypogonadism with neurological symptoms.Gene. 2015 Dec 15;574(2):380-4. doi: 10.1016/j.gene.2015.08.029. Epub 2015 Aug 14.
134 A patient with mitochondrial disorder due to a novel mutation in MRPS22.Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27.
135 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.Eur J Med Genet. 2014 May-Jun;57(6):267-8. doi: 10.1016/j.ejmg.2014.03.004. Epub 2014 Mar 18.
136 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7.
137 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.
138 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.
139 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.Hum Genome Var. 2016 Feb 4;3:15069. doi: 10.1038/hgv.2015.69. eCollection 2016.
140 Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015.
141 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2.
142 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4.
143 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4.
144 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10.
145 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7.
146 A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.J Cell Biochem. 2019 Nov;120(11):19004-19018. doi: 10.1002/jcb.29223. Epub 2019 Jun 27.
147 Movement disorders phenomenology in focal motor seizures.Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16.
148 Clinical, biochemical and molecular characterization of prosaposin deficiency.Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19.
149 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37. Epub 2015 Mar 18.
150 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.
151 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.Sci Rep. 2016 Aug 3;6:30896. doi: 10.1038/srep30896.
152 DEPDC5 mutations in familial and sporadic focal epilepsy.Clin Genet. 2017 Oct;92(4):397-404. doi: 10.1111/cge.12992. Epub 2017 Mar 30.
153 High frequency of SH3TC2 mutations in Czech HMSN I patients.Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1.
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155 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20.
156 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.
157 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.BMC Med Genet. 2017 Jun 2;18(1):62. doi: 10.1186/s12881-017-0425-4.
158 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12.
159 Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.BMJ Case Rep. 2019 May 27;12(5):e228782. doi: 10.1136/bcr-2018-228782.
160 Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.Mol Cell Probes. 2017 Jun;33:24-27. doi: 10.1016/j.mcp.2017.03.001. Epub 2017 Mar 3.
161 Developmental changes in trak-mediated mitochondrial transport in neurons.Mol Cell Neurosci. 2017 Apr;80:134-147. doi: 10.1016/j.mcn.2017.03.006. Epub 2017 Mar 11.
162 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.
163 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.
164 ALS2/alsin knockout mice and motor neuron diseases.Neurodegener Dis. 2008;5(6):359-66. doi: 10.1159/000151295. Epub 2008 Aug 20.
165 Role of ANO3 mutations in dystonia: A large-scale mutational screening study.Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.
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167 Methamphetamine-induced stereotypy correlates negatively with patch-enhanced prodynorphin and arc mRNA expression in the rat caudate putamen: the role of mu opioid receptor activation.Pharmacol Biochem Behav. 2010 Jun;95(4):410-21. doi: 10.1016/j.pbb.2010.02.019. Epub 2010 Mar 15.
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169 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.
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171 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.
172 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
173 Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18.
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175 Clinical relevance of heterozygosis for aceruloplasminemia.Am J Med Genet B Neuropsychiatr Genet. 2019 Jun;180(4):266-271. doi: 10.1002/ajmg.b.32723. Epub 2019 Mar 22.
176 -Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.
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