Details of Disease

General Information of Disease (ID: DISKYHXL)

Disease Name	Frontotemporal dementia
Synonyms	frontotemporal lobe dementia (FLDEM); MSTD; multiple system tauopathy with presenile dementia; frontotemporal lobar degeneration; FTD; pallidopontonigral degeneration; Wilhemsen-Lynch disease
Disease Class	6D83: Frontotemporal dementia
Definition	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.
Disease Hierarchy	DISFWL8F: Hereditary dementia DISPN7D2: Inherited neurodegenerative disorder DISKYHXL: Frontotemporal dementia
ICD Code	ICD-11 ICD-11: 6D83
Disease Identifiers	MONDO ID MONDO_0017276 MESH ID D057180 UMLS CUI C0338451 OMIM ID 600274 MedGen ID 83266 HPO ID HP:0002145 Orphanet ID 282 SNOMED CT ID 230270009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AL001	DM7YBGH	Phase 3	Antibody	[1]
GSK4527223	DMXLD07	Phase 3	Antibody	[2]
DNL593	DMMSA9Y	Phase 1/2	Fusion protein	[3]
PBFT02	DMMXU5U	Phase 1/2	Gene therapy	[4]
PR-006	DMM7HKG	Phase 1/2	Gene therapy	[5]
ANAVEX 3-71	DM31634	Phase 1	Small molecule	[6]
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⏷ Show the Full List of 6 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 36 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APP	TTE4KHA	Limited	Altered Expression	[7]
CARM1	TTIZQFJ	Limited	Altered Expression	[8]
CASP2	TT12VNG	Limited	Biomarker	[9]
CDC7	TTSMTDI	Limited	Biomarker	[10]
CTSC	TT4H0V2	Limited	Genetic Variation	[11]
F11	TTDM4ZU	Limited	Biomarker	[12]
KMT5A	TTGC95K	Limited	Altered Expression	[13]
PSEN1	TTZ3S8C	Limited	CausalMutation	[14]
PTBP1	TTWMX0U	Limited	Altered Expression	[15]
TDP1	TT64IHJ	Limited	Biomarker	[16]
KIF5A	TTCJPAH	Disputed	Genetic Variation	[17]
CIT	TT3BKTU	moderate	Biomarker	[18]
CSNK1D	TTH30UI	moderate	Biomarker	[19]
GABRB2	TTZA1NY	moderate	Genetic Variation	[20]
LAMC2	TTNS7H3	moderate	Altered Expression	[21]
PSEN2	TTWN3F4	moderate	Biomarker	[22]
RRM1	TTWP0NS	moderate	Biomarker	[23]
CTSD	TTPT2QI	Strong	Biomarker	[24]
FMNL1	TTW20PQ	Strong	Genetic Variation	[25]
GAP43	TTSGLN5	Strong	Biomarker	[26]
GNE	TT4DP5S	Strong	Genetic Variation	[27]
GRIA3	TT82EZV	Strong	Genetic Variation	[28]
HMBS	TTT0HW3	Strong	Genetic Variation	[29]
HNRNPA1	TTPJ9XK	Strong	Biomarker	[30]
HTT	TTIWZ0O	Strong	Biomarker	[31]
LAMP1	TTC214J	Strong	Biomarker	[32]
MAP3K14	TT4LIAC	Strong	Genetic Variation	[25]
MAP4K4	TT6NI13	Strong	Genetic Variation	[25]
MASP2	TTR01E9	Strong	Genetic Variation	[33]
MSMB	TTYH1ZK	Strong	Biomarker	[34]
SORT1	TTRX9AV	Strong	Biomarker	[35]
TBK1	TTMP03S	Strong	Genetic Variation	[36]
TNIK	TTPB1W3	Strong	Genetic Variation	[37]
HNRNPA2B1	TT8UPW6	Definitive	Genetic Variation	[38]
LRRK2	TTK0FEA	Definitive	Genetic Variation	[39]
PYY	TTVFJLX	Definitive	Genetic Variation	[40]
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⏷ Show the Full List of 36 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A38	DTV8SWX	Limited	Biomarker	[41]
SLC25A27	DT0HW5C	moderate	Biomarker	[42]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLDC	DEIN8FB	moderate	Genetic Variation	[43]
FUT10	DEP8X02	Strong	Genetic Variation	[37]
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This Disease Is Related to 131 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALYREF	OTOF2ADD	Limited	Biomarker	[44]
ATP5F1A	OT3FZDLX	Limited	Biomarker	[45]
BNIP1	OT7USYCY	Limited	Genetic Variation	[46]
CAMK2A	OTJGX19T	Limited	Altered Expression	[47]
CEACAM4	OT0C7YUD	Limited	Biomarker	[48]
ERGIC1	OT351FKB	Limited	Genetic Variation	[46]
HAP1	OT6SG0JQ	Limited	Genetic Variation	[49]
HNRNPC	OT47AK4C	Limited	Biomarker	[50]
HNRNPDL	OTB3BFCV	Limited	Biomarker	[50]
L3MBTL1	OT8M52QY	Limited	Biomarker	[13]
LAD1	OT6YGTVX	Limited	Biomarker	[51]
NONO	OTN36Q6U	Limited	Biomarker	[52]
PTCRA	OTQTO5QZ	Limited	Biomarker	[12]
RAB29	OTDZT6LP	Limited	Biomarker	[53]
RPS25	OTKLWED2	Limited	Biomarker	[54]
SARM1	OTEP4I5O	Limited	Biomarker	[55]
SPAG8	OTZC5XP9	Limited	Genetic Variation	[56]
SPG11	OTZ7LJX4	Limited	Genetic Variation	[57]
SPTLC1	OTN0Z98K	Limited	Biomarker	[58]
TIA1	OTGPN3P8	Limited	Genetic Variation	[59]
TTBK2	OT90YSM5	Limited	Altered Expression	[60]
AFF2	OTMF1PZW	Disputed	Altered Expression	[61]
CALCOCO2	OTRGX0OV	Disputed	Biomarker	[62]
GLCE	OTPRSHX5	Disputed	Biomarker	[63]
RREB1	OT62460U	Disputed	Biomarker	[64]
STMN2	OT0FUHLH	Disputed	Biomarker	[65]
AARS2	OTOB0KSG	moderate	Biomarker	[66]
ADAMTS2	OTTK22NO	moderate	Biomarker	[67]
APOD	OTT77XW8	moderate	Biomarker	[68]
CHMP2A	OTV53D33	moderate	Genetic Variation	[69]
CHMP6	OT94GFIF	moderate	Genetic Variation	[69]
CLDN2	OTRF3D6Y	moderate	Biomarker	[70]
DCT	OTYVNTBG	moderate	Genetic Variation	[71]
DCUN1D1	OT8UJLZU	moderate	Biomarker	[72]
DPP6	OTWW3H0K	moderate	Genetic Variation	[73]
ELP2	OTBXG37N	moderate	Genetic Variation	[74]
EWSR1	OT7SRHV3	moderate	Genetic Variation	[75]
HNRNPH1	OTFRWOLM	moderate	Biomarker	[76]
HNRNPH2	OTMGP4J7	moderate	Biomarker	[76]
HNRNPR	OT3FITK2	moderate	Biomarker	[77]
NRGN	OTVGE10W	moderate	Biomarker	[78]
NSF	OTKRJ2ZT	moderate	Biomarker	[43]
PHF1	OTW2PSIR	moderate	Biomarker	[79]
PTBP2	OTF4S7NE	moderate	Biomarker	[80]
RANBP2	OTFG5CVF	moderate	Genetic Variation	[71]
SETX	OTG3JNOQ	moderate	Genetic Variation	[46]
SFPQ	OTLCIAPJ	moderate	Biomarker	[52]
SH3RF1	OT7MYGYO	moderate	Biomarker	[81]
SUCLA2	OTMZD4PW	moderate	Biomarker	[82]
SYNCRIP	OTRNDZXB	moderate	Biomarker	[77]
TMED9	OTYGAQS0	moderate	Genetic Variation	[83]
TPPP	OTCFMSUF	moderate	Genetic Variation	[83]
AAAS	OTJT9T23	Strong	Genetic Variation	[84]
APOC1	OTA58CED	Strong	Biomarker	[85]
ATP9B	OTRTYQOK	Strong	Genetic Variation	[37]
BPIFA2	OTLFSDZD	Strong	Biomarker	[34]
BTNL2	OTTTEMZA	Strong	Biomarker	[86]
CCNF	OTJFVU43	Strong	Genetic Variation	[87]
CEP131	OT6PF80T	Strong	Genetic Variation	[88]
CFDP1	OTXY7J96	Strong	Genetic Variation	[84]
CHAF1A	OTXSSY4H	Strong	Genetic Variation	[89]
CHCHD10	OTCDHAM6	Strong	Genetic Variation	[90]
CHCHD2	OTL5PA3Y	Strong	Genetic Variation	[91]
CHI3L1	OT2Z7VJH	Strong	Biomarker	[92]
CHMP2B	OTZA7RJB	Strong	Genetic Variation	[93]
COL28A1	OT78UJD5	Strong	Genetic Variation	[37]
CTR9	OTP151PZ	Strong	Genetic Variation	[89]
DCTN1	OT5B51FJ	Strong	Genetic Variation	[94]
EIF4G2	OTEO98CR	Strong	Genetic Variation	[84]
ELP1	OTYEWBF7	Strong	Genetic Variation	[89]
EXT1	OTRPALJK	Strong	Biomarker	[95]
EXT2	OT8IR5QN	Strong	Biomarker	[95]
FLNC	OT3F8J6Y	Strong	Genetic Variation	[96]
GEMIN4	OTX7402E	Strong	Genetic Variation	[84]
GFRA2	OT34CXNN	Strong	Genetic Variation	[37]
INA	OT1D33T4	Strong	Biomarker	[97]
ITM2B	OTMXEPXB	Strong	Genetic Variation	[98]
MAK16	OTD546E5	Strong	Biomarker	[99]
MATR3	OTESJ5S7	Strong	Biomarker	[100]
MCIDAS	OTK1JVAH	Strong	Biomarker	[101]
NAPG	OTY4WS64	Strong	Genetic Variation	[102]
ND1	OTCLGIXV	Strong	Biomarker	[103]
NDUFAF8	OT9EVJYG	Strong	Genetic Variation	[88]
NDUFS1	OTTIZDFR	Strong	Genetic Variation	[37]
NEFH	OTMSCW5I	Strong	Biomarker	[97]
NEFL	OTQESJV4	Strong	Biomarker	[104]
NEFM	OT8VCBNF	Strong	Biomarker	[97]
OPTN	OT2UXWH9	Strong	Biomarker	[105]
PABPN1	OT3MC5SE	Strong	Genetic Variation	[106]
PFN1	OTHTGA1H	Strong	Genetic Variation	[107]
PICALM	OTQVRPMQ	Strong	Genetic Variation	[108]
PIK3R4	OTRL8QP8	Strong	Genetic Variation	[89]
PNO1	OT010GIS	Strong	Biomarker	[99]
PRKAR1B	OT777OHS	Strong	Biomarker	[109]
PSAP	OTUOEKY7	Strong	Genetic Variation	[110]
PSG1	OT1U4ZZW	Strong	Biomarker	[111]
PSG7	OT1IXGBX	Strong	Biomarker	[111]
PSG8	OT00UZBM	Strong	Biomarker	[111]
PSMD2	OT6HZHN7	Strong	Genetic Variation	[84]
PSPH	OTV1PVAX	Strong	Biomarker	[34]
PSPN	OT54LLZJ	Strong	Biomarker	[34]
RAB3GAP2	OTQTE0GI	Strong	Genetic Variation	[89]
RAN	OT2TER5M	Strong	Biomarker	[54]
RBMS3	OTFSC9MR	Strong	Biomarker	[99]
RBMX	OTFZN66E	Strong	Biomarker	[112]
REG1A	OTMHUH1D	Strong	Biomarker	[34]
RIDA	OTW4098I	Strong	Biomarker	[34]
RMDN1	OTE1NB6U	Strong	Biomarker	[113]
RMDN2	OTK5WSFI	Strong	Biomarker	[113]
RMDN3	OTKO7AUM	Strong	Biomarker	[113]
RNPS1	OT7G4COD	Strong	Genetic Variation	[114]
SERPINI1	OTUJHIJW	Strong	Genetic Variation	[98]
SMURF1	OT5UIZR8	Strong	Biomarker	[115]
SRRM2	OTSIMMC9	Strong	Biomarker	[99]
SRSF3	OTOFT707	Strong	Genetic Variation	[116]
SRSF4	OTLI7CU1	Strong	Biomarker	[112]
SRSF9	OT2STDP4	Strong	Genetic Variation	[117]
ST18	OTPRIMTA	Strong	Genetic Variation	[37]
STH	OTK8ULTH	Strong	Genetic Variation	[118]
STXBP3	OTTTYMAQ	Strong	Biomarker	[34]
SYBU	OT3FQV7N	Strong	Biomarker	[113]
SYN1	OTMNPWC1	Strong	Biomarker	[119]
TAF15	OTNE038N	Strong	Biomarker	[120]
TEPSIN	OTJIVR84	Strong	Genetic Variation	[88]
TMEM106B	OTUWA6NW	Strong	Genetic Variation	[121]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[122]
TSBP1	OT5GE8IO	Strong	Genetic Variation	[123]
ADARB1	OTGKSZEV	Definitive	Biomarker	[124]
CYCS	OTBFALJD	Definitive	Biomarker	[125]
MFSD8	OT455EIC	Definitive	Genetic Variation	[126]
RAB38	OTU0NZU0	Definitive	Genetic Variation	[11]
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⏷ Show the Full List of 131 DOT(s)

References

1	ClinicalTrials.gov (NCT04374136) A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene. U.S.National Institutes of Health.
2	Clinical pipeline report, company report or official report of GlaxoSmithKline
3	ClinicalTrials.gov (NCT05262023) A Phase 1/2, Multicenter, Randomized, Placebo-Controlled, Double Blind Single Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL593 in Healthy Participants and Participants With Frontotemporal Dementia Followed by an Open-Label Extension. U.S.National Institutes of Health.
4	ClinicalTrials.gov (NCT04747431) A Phase 1b Open-Label, Multicenter, Dose-Escalation Study to Assess the Safety, Tolerability, and Pharmacodynamic Effects of a Single Dose of PBFT02 Delivered Into the Cisterna Magna of Adult Subjects With Frontotemporal Dementia and Mutations in the Progranulin Gene. U.S.National Institutes of Health.
5	ClinicalTrials.gov (NCT04408625) A Phase 1/2 Ascending Dose Study to Evaluate the Safety and Effects on Progranulin Levels of LY3884963 in Patients With Fronto-Temporal Dementia With Progranulin Mutations (FTD-GRN). U.S.National Institutes of Health.
6	ClinicalTrials.gov (NCT04442945) A Double-blind, Randomized, Placebo-controlled, Phase 1 Safety and Tolerability, and Pharmacokinetics Study of ANAVEX3-71. U.S.National Institutes of Health.
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11	Frontotemporal dementia and its subtypes: a genome-wide association study.Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1.
12	Midregional Proenkephalin A and N-terminal Protachykinin A are decreased in the cerebrospinal fluid of patients with dementia disorders and acute neuroinflammation.J Neuroimmunol. 2010 Apr 15;221(1-2):62-7. doi: 10.1016/j.jneuroim.2010.02.004. Epub 2010 Mar 5.
13	L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control.Nat Neurosci. 2019 Jun;22(6):875-886. doi: 10.1038/s41593-019-0384-5. Epub 2019 May 6.
14	PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.J Mov Disord. 2018 Jan;11(1):45-48. doi: 10.14802/jmd.17066. Epub 2018 Jan 11.
15	Neurons Induced From Fibroblasts of c9ALS/FTD Patients Reproduce the Pathology Seen in the Central Nervous System.Front Neurosci. 2019 Sep 6;13:935. doi: 10.3389/fnins.2019.00935. eCollection 2019.
16	The Caenorhabditis elegans Ortholog of TDP-43 Regulates the Chromatin Localization of the Heterochromatin Protein 1 Homolog HPL-2.Mol Cell Biol. 2018 Jul 16;38(15):e00668-17. doi: 10.1128/MCB.00668-17. Print 2018 Aug 1.
17	Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients.Neurobiol Aging. 2019 Jan;73:229.e1-229.e4. doi: 10.1016/j.neurobiolaging.2018.08.006. Epub 2018 Aug 9.
18	The role of 18F-FP-CIT PET in differentiation of progressive supranuclear palsy and frontotemporal dementia in the early stage.Eur J Nucl Med Mol Imaging. 2018 Jul;45(9):1585-1595. doi: 10.1007/s00259-018-4019-y. Epub 2018 May 4.
19	Targeting TDP-43 phosphorylation by Casein Kinase-1 inhibitors: a novel strategy for the treatment of frontotemporal dementia.Mol Neurodegener. 2016 Apr 30;11(1):36. doi: 10.1186/s13024-016-0102-7.
20	Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z.
21	18F-Florbetaben PET/CT to Assess Alzheimer's Disease: A new Analysis Method for Regional Amyloid Quantification.J Neuroimaging. 2019 May;29(3):383-393. doi: 10.1111/jon.12601. Epub 2019 Feb 3.
22	Data Mining: Applying the AD&FTD Mutation Database to Progranulin.Methods Mol Biol. 2018;1806:81-92. doi: 10.1007/978-1-4939-8559-3_6.
23	Virus-mediated delivery of antibody targeting TAR DNA-binding protein-43 mitigates associated neuropathology.J Clin Invest. 2019 Feb 25;129(4):1581-1595. doi: 10.1172/JCI123931. eCollection 2019 Feb 25.
24	Upregulation of ATG7 attenuates motor neuron dysfunction associated with depletion of TARDBP/TDP-43.Autophagy. 2020 Apr;16(4):672-682. doi: 10.1080/15548627.2019.1635379. Epub 2019 Jul 7.
25	The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17.Hum Genet. 1998 Sep;103(3):340-5. doi: 10.1007/s004390050827.
26	The cerebrospinal fluid levels of tau, growth-associated protein-43 and soluble amyloid precursor protein correlate in Alzheimer's disease, reflecting a common pathophysiological process.Dement Geriatr Cogn Disord. 2001 Jul-Aug;12(4):257-64. doi: 10.1159/000051268.
27	Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.Mol Genet Metab. 2001 Dec;74(4):458-75. doi: 10.1006/mgme.2001.3256.
28	Anti-GluA3 antibodies in frontotemporal dementia: effects on glutamatergic neurotransmission and synaptic failure.Neurobiol Aging. 2020 Feb;86:143-155. doi: 10.1016/j.neurobiolaging.2019.10.015. Epub 2019 Nov 1.
29	The heritability and genetics of frontotemporal lobar degeneration.Neurology. 2009 Nov 3;73(18):1451-6. doi: 10.1212/WNL.0b013e3181bf997a.
30	PARylation regulates stress granule dynamics, phase separation, and neurotoxicity of disease-related RNA-binding proteins.Cell Res. 2019 Mar;29(3):233-247. doi: 10.1038/s41422-019-0141-z. Epub 2019 Feb 6.
31	Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease.Neurobiol Aging. 2020 Mar;87:139.e1-139.e7. doi: 10.1016/j.neurobiolaging.2019.10.017. Epub 2019 Nov 1.
32	The role of lysosomes and autophagosomes in frontotemporal lobar degeneration.Neuropathol Appl Neurobiol. 2019 Apr;45(3):244-261. doi: 10.1111/nan.12500. Epub 2018 Jun 19.
33	No association of TDP-43 with sporadic frontotemporal dementia.Neurobiol Aging. 2009 Jan;30(1):157-9. doi: 10.1016/j.neurobiolaging.2007.05.022. Epub 2007 Jul 5.
34	Cerebellar atrophy in neurodegeneration-a meta-analysis.J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):780-788. doi: 10.1136/jnnp-2017-315607. Epub 2017 May 13.
35	Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17.
36	Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.
37	Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.
38	Mechanistic View of hnRNPA2 Low-Complexity Domain Structure, Interactions, and Phase Separation Altered by Mutation and Arginine Methylation.Mol Cell. 2018 Feb 1;69(3):465-479.e7. doi: 10.1016/j.molcel.2017.12.022. Epub 2018 Jan 18.
39	Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease.J Psychiatr Res. 2019 Jun;113:141-147. doi: 10.1016/j.jpsychires.2019.03.026. Epub 2019 Mar 30.
40	Eating peptides: biomarkers of neurodegeneration in amyotrophic lateral sclerosis and frontotemporal dementia.Ann Clin Transl Neurol. 2019 Jan 31;6(3):486-495. doi: 10.1002/acn3.721. eCollection 2019 Mar.
41	Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.Neuron. 2015 Sep 2;87(5):963-75. doi: 10.1016/j.neuron.2015.08.020.
42	Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia.Aging (Albany NY). 2018 Nov 13;10(11):3283-3293. doi: 10.18632/aging.101632.
43	Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.
44	Drosophila Ref1/ALYREF regulates transcription and toxicity associated with ALS/FTD disease etiologies.Acta Neuropathol Commun. 2019 Apr 29;7(1):65. doi: 10.1186/s40478-019-0710-x.
45	C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.Nat Neurosci. 2019 Jun;22(6):851-862. doi: 10.1038/s41593-019-0397-0. Epub 2019 May 13.
46	Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.JAMA Neurol. 2018 Jul 1;75(7):860-875. doi: 10.1001/jamaneurol.2018.0372.
47	An insoluble frontotemporal lobar degeneration-associated TDP-43 C-terminal fragment causes neurodegeneration and hippocampus pathology in transgenic mice.Hum Mol Genet. 2015 Dec 20;24(25):7241-54. doi: 10.1093/hmg/ddv424. Epub 2015 Oct 16.
48	Visual encoding, consolidation, and retrieval in amyotrophic lateral sclerosis: executive function as a mediator, and predictor of performance.Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):193-201. doi: 10.1080/21678421.2016.1272615. Epub 2017 Jan 13.
49	Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1.Mamm Genome. 1998 Jul;9(7):565-70. doi: 10.1007/s003359900819.
50	Linking hnRNP Function to ALS and FTD Pathology.Front Neurosci. 2018 May 15;12:326. doi: 10.3389/fnins.2018.00326. eCollection 2018.
51	CSF/serum albumin ratio in dementias: a cross-sectional study on 1861 patients.Neurobiol Aging. 2017 Nov;59:1-9. doi: 10.1016/j.neurobiolaging.2017.06.028. Epub 2017 Jul 11.
52	Cerebral ischemia induces the aggregation of proteins linked to neurodegenerative diseases.Sci Rep. 2018 Feb 9;8(1):2701. doi: 10.1038/s41598-018-21063-z.
53	C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024.
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