Details of Disease

General Information of Disease (ID: DISUHWUI)

Disease Name Motor neurone disease
Synonyms motor neuron disease or disorder; anterior horn cell disease; disorder of motor neuron; motor neuron disease; disease or disorder of motor neuron; disease of motor neuron
Disease Class 8B60: Motor neuron disease
Definition A disease involving the motor neuron.
Disease Hierarchy
DISQTIJZ: Neuromuscular disease
DISWD40R: Disease
DISM20FF: Neurodegenerative disease
DISUHWUI: Motor neurone disease
ICD Code
ICD-11
ICD-11: 8B60
ICD-10
ICD-10: G12.2
ICD-9
ICD-9: 335.2
Expand ICD-11
'8B60
Expand ICD-10
'G12.2
Expand ICD-9
335.2
Disease Identifiers
MONDO ID
MONDO_0020128
MESH ID
D016472
UMLS CUI
C0085084
MedGen ID
38785
Orphanet ID
98503
SNOMED CT ID
37340000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AEN-100 DMS51GI Phase 4 NA [1]
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This Disease is Treated as An Indication in 5 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Creatine ALS-08 DMKD2BQ Phase 3 Small molecular drug [2]
NT-KO-003 DMEZW15 Phase 2 NA [3]
CC-100 DM2AYUX Phase 1 Small molecular drug [4]
ISIS-SOD1 DMV1BTP Phase 1 Antisense drug [5]
RG-7010 DMMWS3O Phase 1 NA [6]
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This Disease is Treated as An Indication in 1 Preclinical Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Celastrol DMWQIJX Preclinical Small molecular drug [7]
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This Disease is Treated as An Indication in 2 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AX-205 DM1R5GM Terminated NA [8]
PLD-180 DMRQ7CN Terminated NA [9]
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This Disease is Treated as An Indication in 58 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AAV-IGF DM8AJ5P Investigative NA [10]
ALS-AAV9 DMISDXZ Investigative NA [10]
CERE-135 DMB8Q84 Investigative NA [10]
Cis-tetracosenoyl sulfatide DMQCIXT Investigative Small molecular drug [10]
ETN-002 DM5HZX2 Investigative NA [10]
GEM-ALS DMYZCZK Investigative NA [10]
MGN-8107 DM69XO6 Investigative NA [10]
NNZ-4945 DM8Q8ZH Investigative NA [10]
NsG-33 DM2Q6PP Investigative NA [10]
NT-FV-007 DMLPB4A Investigative NA [10]
RTA-801 DMC3OZ4 Investigative NA [10]
SCLERON DMLS9QX Investigative NA [10]
Stem cell-derived astrocytes DMR4JS3 Investigative NA [10]
TDI-0010 DMBTC27 Investigative NA [10]
TDI-0015 DMC3TJF Investigative NA [10]
TDI-0018 DMO331M Investigative NA [10]
TDI-0020 DM17Z7Y Investigative NA [10]
TDI-0025 DMZAFNY Investigative NA [10]
TDI-0026 DMTKE5E Investigative NA [10]
TDI-0028 DMNQ0VF Investigative NA [10]
TDI-0029 DM86LJR Investigative NA [10]
TDI-0032 DMEH0DZ Investigative NA [10]
TDI-0033 DMQ7VDM Investigative NA [11]
TDI-0039 DMO16VX Investigative NA [10]
TDI-0042 DM19LOT Investigative NA [10]
TDI-0043 DMN7P5C Investigative NA [10]
TDI-0046 DMEQ0S0 Investigative NA [10]
TDI-0047 DMOP64S Investigative NA [10]
TDI-0048 DMTSP37 Investigative NA [10]
TDI-0049 DMQJBHT Investigative NA [10]
TDI-0050 DMNP45L Investigative NA [10]
TDI-0051 DM2ROUI Investigative NA [10]
TDI-0053 DM59N0J Investigative NA [10]
TDI-0054 DM7O1TE Investigative NA [10]
TDI-0055 DM10KXT Investigative NA [10]
TDI-0057 DM1QC2C Investigative NA [10]
TDI-0059 DMSI9QM Investigative NA [11]
TDI-0060 DMXHWAY Investigative NA [12]
TDI-0065 DMWPER5 Investigative NA [10]
TDI-0066 DMM58NL Investigative NA [10]
TDI-0067 DM0OMZ5 Investigative NA [10]
TDI-0068 DMYLIB3 Investigative NA [10]
TDI-0074 DMDE4M7 Investigative NA [10]
TDI-0079 DM5HEIR Investigative NA [12]
TDI-0087 DMYTQI4 Investigative NA [10]
TDI-0090 DMCWNT6 Investigative NA [10]
TDI-0094 DMTZC81 Investigative NA [10]
TDI-0098 DMJTVCB Investigative NA [10]
TDI-0099 DMHE8FP Investigative NA [10]
TDI-0102 DM2UAXB Investigative NA [10]
TDI-0103 DM2BV08 Investigative NA [10]
TDI-0105 DMCW2XW Investigative NA [10]
TDI-0106 DMVM50S Investigative NA [10]
TDI-0107 DMWGDXF Investigative NA [12]
TDI-0111 DM3JHMR Investigative NA [10]
TDI-0113 DMIV7R8 Investigative NA [10]
TDI-0114 DMADI2C Investigative NA [10]
TDI-0115 DM05SV6 Investigative NA [10]
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⏷ Show the Full List of 58 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 29 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C9orf72 TTA4SHR Limited Genetic Variation [13]
EPHA4 TTG84D3 Limited Biomarker [14]
GDNF TTF23ML Limited Biomarker [15]
NEK1 TTO5QT2 Limited Biomarker [16]
PNPLA6 TTWAQU2 Limited Biomarker [17]
TBK1 TTMP03S Limited Biomarker [16]
ANG TTURHFP moderate Genetic Variation [18]
AIF1 TT12MEP Strong Biomarker [19]
CNTF TTGEM5Q Strong Biomarker [20]
CTF1 TTXGTZU Strong Biomarker [21]
FKBP1A TTMW94E Strong Biomarker [22]
FUS TTKGYZ9 Strong Genetic Variation [23]
GJD2 TTOZAFI Strong Biomarker [24]
GLRX TTRJCNG Strong Altered Expression [25]
GRIA2 TTWM461 Strong Altered Expression [26]
GRM2 TTXJ47W Strong Altered Expression [26]
GRN TT0LWE3 Strong Genetic Variation [27]
HEXB TTKIBKM Strong Genetic Variation [28]
HNRNPA2B1 TT8UPW6 Strong Biomarker [29]
HSPB8 TTY0OJN Strong Biomarker [30]
KHDRBS1 TTAT6C7 Strong Biomarker [31]
PABPC1 TTHC8EF Strong Biomarker [32]
SEMA3A TTVKD3S Strong Genetic Variation [33]
SIGMAR1 TT5TPI6 Strong Genetic Variation [34]
SLC1A2 TT2F078 Strong Biomarker [35]
SLC1A3 TT8WRDA Strong Biomarker [35]
SMN1 TT8QL6X Strong Genetic Variation [36]
STMN1 TT7W5OT Strong Genetic Variation [37]
VCP TTHNLSB Strong Genetic Variation [38]
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⏷ Show the Full List of 29 DTT(s)
This Disease Is Related to 61 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSCAML1 OT7QURQT Limited Autosomal recessive [39]
KIF1B OTI1XQTO Limited Genetic Variation [40]
LAS1L OTG4I2A1 Limited Genetic Variation [41]
LSM2 OTHL77NY Limited Biomarker [42]
PRDX3 OTLB2WEU Limited Biomarker [43]
RNASE1 OTKZ7CO9 Limited Genetic Variation [18]
RRAD OTW2O4GD Limited Biomarker [44]
TIGAR OTR7NMRJ Limited Biomarker [45]
AAAS OTJT9T23 moderate Genetic Variation [46]
GEMIN2 OT4L6TLL moderate Biomarker [47]
AGTPBP1 OTR92JFR Strong Biomarker [48]
ALS2 OT8BAM04 Strong Genetic Variation [49]
ARHGEF28 OT3F32IU Strong Biomarker [50]
ATL1 OTR2788Y Strong Genetic Variation [51]
BSCL2 OT73V6Y4 Strong Genetic Variation [52]
C19orf12 OTVSJ1AR Strong Biomarker [53]
CHCHD10 OTCDHAM6 Strong Genetic Variation [54]
CHCHD2 OTL5PA3Y Strong Genetic Variation [54]
CHMP2B OTZA7RJB Strong Genetic Variation [55]
CLEC10A OTD8HQT6 Strong Altered Expression [56]
COL17A1 OTID5AH2 Strong Altered Expression [57]
DCTN1 OT5B51FJ Strong Genetic Variation [58]
DCTN4 OTM7C943 Strong Biomarker [31]
DDX20 OT6G8YF3 Strong Biomarker [30]
DSP OTB2MOP8 Strong Biomarker [59]
EXOSC3 OTNCF906 Strong Genetic Variation [60]
FIG4 OT501PY9 Strong Biomarker [61]
GEMIN6 OTE262KF Strong Biomarker [47]
GFRA1 OT3WBVYB Strong Altered Expression [62]
GLE1 OT0K44H1 Strong Genetic Variation [63]
GTF2H1 OTCRXC6B Strong Biomarker [31]
HNRNPA3 OT4O4NFS Strong Biomarker [64]
IGFALS OTTWCZYM Strong Biomarker [65]
IGHMBP2 OTAZFPF5 Strong Genetic Variation [66]
LY6E OTMG16BZ Strong Biomarker [67]
MT3 OTVCZ7HI Strong Biomarker [68]
NAIP OTLA925F Strong Genetic Variation [69]
NEFH OTMSCW5I Strong Biomarker [70]
NEFL OTQESJV4 Strong Biomarker [71]
NEFM OT8VCBNF Strong Genetic Variation [72]
NOP56 OTT67SRZ Strong Biomarker [73]
NUP62 OTMN63DH Strong Biomarker [31]
OGA OT7ZBWT1 Strong Genetic Variation [74]
OPTN OT2UXWH9 Strong Genetic Variation [75]
PLEKHG5 OTL0S21W Strong Genetic Variation [76]
PLS1 OTWURB8U Strong Biomarker [77]
PQBP1 OTXCBEAH Strong Biomarker [78]
PRPH OT6VUH78 Strong Genetic Variation [79]
RAB5A OTFR2KM4 Strong Biomarker [80]
SARM1 OTEP4I5O Strong Altered Expression [81]
SETX OTG3JNOQ Strong Biomarker [82]
SMN2 OT54RLO1 Strong Genetic Variation [36]
SNRPN OTQB1ID1 Strong Genetic Variation [37]
SPAST OTIF3AJI Strong Genetic Variation [83]
TBCE OTGBSTKS Strong Biomarker [84]
TECPR2 OT1UFECZ Strong Biomarker [85]
TIA1 OTGPN3P8 Strong Biomarker [32]
TMED9 OTYGAQS0 Strong Biomarker [86]
TMEM106B OTUWA6NW Strong Genetic Variation [87]
TPPP OTCFMSUF Strong Biomarker [86]
PPP1R15A OTYG179K Definitive Biomarker [88]
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⏷ Show the Full List of 61 DOT(s)

References

1 ClinicalTrials.gov (NCT00004338) Study of Zinc for Wilson Disease. U.S. National Institutes of Health.
2 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: 4496).
3 ClinicalTrials.gov (NCT01428726) A Phase IIa Study of NT-KO-003 for Multiple Sclerosis. U.S. National Institutes of Health.
4 ClinicalTrials.gov (NCT02050334) CC100: Safety and Tolerability of Single Doses. U.S. National Institutes of Health.
5 ClinicalTrials.gov (NCT01041222) Safety, Tolerability, and Activity Study of ISIS SOD1Rx to Treat Familial Amyotrophic Lateral Sclerosis (ALS) Caused by SOD1 Gene Mutations. U.S. National Institutes of Health.
6 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800031207)
7 Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis. Expert Opin Emerg Drugs. 2007 May;12(2):229-52.
8 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800018795)
9 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800020839)
10 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
11 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: 1888).
12 Copper binding by tetrathiomolybdate attenuates angiogenesis and tumor cell proliferation through the inhibition of superoxide dismutase 1. Clin Cancer Res. 2006 Aug 15;12(16):4974-82.
13 Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72.Hum Brain Mapp. 2020 Mar;41(4):1006-1016. doi: 10.1002/hbm.24856. Epub 2019 Nov 7.
14 Reduction of ephrin-A5 aggravates disease progression in amyotrophic lateral sclerosis.Acta Neuropathol Commun. 2019 Jul 12;7(1):114. doi: 10.1186/s40478-019-0759-6.
15 Disruption of the astrocytic TNFR1-GDNF axis accelerates motor neuron degeneration and disease progression in amyotrophic lateral sclerosis.Hum Mol Genet. 2016 Jul 15;25(14):3080-3095. doi: 10.1093/hmg/ddw161. Epub 2016 Jun 10.
16 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21.
17 Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.Muscle Nerve. 2011 Jan;43(1):19-25. doi: 10.1002/mus.21777.
18 Structural insights into human angiogenin variants implicated in Parkinson's disease and Amyotrophic Lateral Sclerosis.Sci Rep. 2017 Feb 8;7:41996. doi: 10.1038/srep41996.
19 Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease.Nat Neurosci. 2008 Nov;11(11):1294-301. doi: 10.1038/nn.2210. Epub 2008 Oct 19.
20 Ciliary neurotrophic factor fused to a protein transduction domain retains full neuroprotective activity in the absence of cytokine-like side effects.J Neurochem. 2009 Jun;109(6):1680-90. doi: 10.1111/j.1471-4159.2009.06091.x. Epub 2009 Apr 7.
21 Cardiotrophin-1 (CTF1) ameliorates glucose-uptake defects and improves memory and learning deficits in a transgenic mouse model of Alzheimer's disease.Pharmacol Biochem Behav. 2013 Jun;107:48-57. doi: 10.1016/j.pbb.2013.03.003. Epub 2013 Mar 26.
22 Expression of FKBP12 and ryanodine receptors (RyRs) in the spinal cord of MND patients.Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Jun;6(2):94-9. doi: 10.1080/14660820510034442.
23 A context-based ABC model for literature-based discovery.PLoS One. 2019 Apr 24;14(4):e0215313. doi: 10.1371/journal.pone.0215313. eCollection 2019.
24 Downregulation of Neuronal and Dendritic Connexin36-Made Electrical Synapses Without Glutamatergic Axon Terminals in Spinal Anterior Horn Cells From the Early Stage of Amyotrophic Lateral Sclerosis.Front Neurosci. 2018 Nov 28;12:894. doi: 10.3389/fnins.2018.00894. eCollection 2018.
25 Knockdown of cytosolic glutaredoxin 1 leads to loss of mitochondrial membrane potential: implication in neurodegenerative diseases.PLoS One. 2008 Jun 18;3(6):e2459. doi: 10.1371/journal.pone.0002459.
26 Novel etiological and therapeutic strategies for neurodiseases: RNA editing enzyme abnormality in sporadic amyotrophic lateral sclerosis.J Pharmacol Sci. 2010;113(1):9-13. doi: 10.1254/jphs.09r21fm. Epub 2010 Apr 16.
27 No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.Neuropathol Appl Neurobiol. 2014 Dec;40(7):844-54. doi: 10.1111/nan.12155.
28 Characterization of the mutant -subunit of -hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.J Biochem. 2013 Jan;153(1):111-9. doi: 10.1093/jb/mvs131. Epub 2012 Nov 5.
29 Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.Neuron. 2017 Apr 5;94(1):108-124.e7. doi: 10.1016/j.neuron.2017.02.046. Epub 2017 Mar 23.
30 Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3).Cell Stress Chaperones. 2010 Sep;15(5):567-82. doi: 10.1007/s12192-010-0169-y. Epub 2010 Feb 17.
31 Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.Neuropathol Appl Neurobiol. 2015 Aug;41(5):601-12. doi: 10.1111/nan.12178. Epub 2015 Apr 30.
32 Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease.Acta Neuropathol. 2008 Oct;116(4):439-45. doi: 10.1007/s00401-008-0415-x. Epub 2008 Jul 19.
33 Expression of a Mutant SEMA3A Protein with Diminished Signalling Capacity Does Not Alter ALS-Related Motor Decline, or Confer Changes in NMJ Plasticity after BotoxA-Induced Paralysis of Male Gastrocnemic Muscle.PLoS One. 2017 Jan 19;12(1):e0170314. doi: 10.1371/journal.pone.0170314. eCollection 2017.
34 Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.Neurobiol Aging. 2014 Aug;35(8):1957.e7-8. doi: 10.1016/j.neurobiolaging.2014.03.001. Epub 2014 Mar 5.
35 Calpain-Dependent Degradation of Nucleoporins Contributes to Motor Neuron Death in a Mouse Model of Chronic Excitotoxicity.J Neurosci. 2017 Sep 6;37(36):8830-8844. doi: 10.1523/JNEUROSCI.0730-17.2017. Epub 2017 Aug 16.
36 Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20.
37 Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.J Neurochem. 2020 Apr;153(2):264-275. doi: 10.1111/jnc.14935. Epub 2020 Jan 8.
38 ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.Ann N Y Acad Sci. 2014 May;1314(1):49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22.
39 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.
40 Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.Neuromuscul Disord. 2011 Feb;21(2):129-31. doi: 10.1016/j.nmd.2010.09.009. Epub 2010 Oct 14.
41 Nol9 Is a Spatial Regulator for the Human ITS2 Pre-rRNA Endonuclease-Kinase Complex.J Mol Biol. 2019 Sep 6;431(19):3771-3786. doi: 10.1016/j.jmb.2019.07.007. Epub 2019 Jul 6.
42 U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish.Nucleic Acids Res. 2015 Mar 31;43(6):3208-18. doi: 10.1093/nar/gkv157. Epub 2015 Mar 3.
43 Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen. Brain. 2006 Jul;129(Pt 7):1693-709. doi: 10.1093/brain/awl118. Epub 2006 May 15.
44 Loss of RAD-23 Protects Against Models of Motor Neuron Disease by Enhancing Mutant Protein Clearance.J Neurosci. 2015 Oct 21;35(42):14286-306. doi: 10.1523/JNEUROSCI.0642-15.2015.
45 TIGAR inclusion pathology is specific for Lewy body diseases.Brain Res. 2019 Mar 1;1706:218-223. doi: 10.1016/j.brainres.2018.09.032. Epub 2018 Sep 26.
46 Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.Hum Mol Genet. 2019 Dec 1;28(23):3921-3927. doi: 10.1093/hmg/ddz236.
47 Gemins modulate the expression and activity of the SMN complex.Hum Mol Genet. 2005 Jun 15;14(12):1605-11. doi: 10.1093/hmg/ddi168. Epub 2005 Apr 20.
48 Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.
49 Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.J Biol Chem. 2018 Nov 2;293(44):17135-17153. doi: 10.1074/jbc.RA118.003849. Epub 2018 Sep 17.
50 Rho guanine nucleotide exchange factor is an NFL mRNA destabilizing factor that forms cytoplasmic inclusions in amyotrophic lateral sclerosis.Neurobiol Aging. 2013 Jan;34(1):248-62. doi: 10.1016/j.neurobiolaging.2012.06.021. Epub 2012 Jul 24.
51 Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.Ann Hum Genet. 2017 Nov;81(6):249-257. doi: 10.1111/ahg.12206. Epub 2017 Jul 23.
52 A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.
53 C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.
54 Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications.Neuroscientist. 2020 Apr;26(2):170-184. doi: 10.1177/1073858419871214. Epub 2019 Sep 16.
55 Frontotemporal dementia caused by CHMP2B mutations.Curr Alzheimer Res. 2011 May;8(3):246-51. doi: 10.2174/156720511795563764.
56 Disruption by SaCas9 Endonuclease of HERV-Kenv, a Retroviral Gene with Oncogenic and Neuropathogenic Potential, Inhibits Molecules Involved in Cancer and Amyotrophic Lateral Sclerosis.Viruses. 2018 Aug 7;10(8):412. doi: 10.3390/v10080412.
57 Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease.Brain Res. 2009 Jan 9;1247:171-7. doi: 10.1016/j.brainres.2008.10.020. Epub 2008 Nov 1.
58 Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.Neurotox Res. 2020 Jan;37(1):48-57. doi: 10.1007/s12640-019-00113-y. Epub 2019 Oct 25.
59 DSP-01 Barriers to the diagnosis of motor neuron disease - a South Australian study.Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):289-300. doi: 10.1080/21678421.2019.1646998.
60 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.
61 Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.Eur J Neurosci. 2011 Apr;33(8):1401-10. doi: 10.1111/j.1460-9568.2011.07651.x. Epub 2011 Mar 17.
62 Expression of GDNF and GDNFR-alpha mRNAs in muscles of patients with motor neuron diseases.Neurochem Res. 1999 Jun;24(6):785-90. doi: 10.1023/a:1020739831778.
63 A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.Clin Genet. 2018 Jan;93(1):173-177. doi: 10.1111/cge.13086. Epub 2017 Nov 24.
64 Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.Acta Neuropathol Commun. 2017 Apr 21;5(1):31. doi: 10.1186/s40478-017-0437-5.
65 Functional microglia neurotransmitters in amyotrophic lateral sclerosis.Semin Cell Dev Biol. 2019 Oct;94:121-128. doi: 10.1016/j.semcdb.2019.04.014. Epub 2019 Apr 23.
66 Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.
67 The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.Neurobiol Dis. 2012 Jan;45(1):356-61. doi: 10.1016/j.nbd.2011.08.021. Epub 2011 Aug 25.
68 Peripheral nerve avulsion injuries as experimental models for adult motoneuron degeneration.Neuropathology. 2005 Dec;25(4):371-80. doi: 10.1111/j.1440-1789.2005.00609.x.
69 The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS.J Neurol Sci. 1997 Jan;145(1):55-61. doi: 10.1016/s0022-510x(96)00240-7.
70 Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).Eur J Hum Genet. 2004 Mar;12(3):241-4. doi: 10.1038/sj.ejhg.5201144.
71 Cerebrospinal fluid neurofilament light concentration in motor neuron disease and frontotemporal dementia predicts survival.Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):397-403. doi: 10.1080/21678421.2017.1281962. Epub 2017 Feb 6.
72 Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.Neurobiol Dis. 2006 Jan;21(1):102-9. doi: 10.1016/j.nbd.2005.06.016. Epub 2005 Aug 3.
73 Assessment of swallowing in motor neuron disease and Asidan/SCA36 patients with new methods.J Neurol Sci. 2013 Jan 15;324(1-2):149-55. doi: 10.1016/j.jns.2012.10.025. Epub 2012 Nov 10.
74 Juvenile-onset motor neuron disease caused by novel mutations in -hexosaminidase.Mol Genet Metab. 2013 Jan;108(1):65-9. doi: 10.1016/j.ymgme.2012.10.023. Epub 2012 Nov 2.
75 Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.Front Immunol. 2018 Jun 6;9:1287. doi: 10.3389/fimmu.2018.01287. eCollection 2018.
76 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16.
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