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ALLMedicine™ Huntington Disease Center

Research & Reviews  732 results

FAN1 nuclease helps to delay Huntington disease.
https://doi.org/10.1038/s41582-022-00670-5 10.1038/s41593-022-01033-5
Nature Reviews. Neurology; Wood H

May 10th, 2022 - FAN1 nuclease helps to delay Huntington disease.|2022|Wood H,|

Nuclear pore complexes - a doorway to neural injury in neurodegeneration.
https://doi.org/10.1038/s41582-022-00653-6 10.1038/nrm.2016.147 10.1038/nrm3461 10.1016/j.ceb.2016.12.006 10.1038/s41593-017-0047-3 10.1016/j.neuron.2020.06.027 10.1016/j.neuron.2018.07.039 10.1016/j.neuron.2017.03.027 10.1038/s41467-019-11837-y 10.1016/j.neuron.2017.03.023 10.1038/nature14973 10.1038/s41593-021-00859-9 10.1038/nature14974 10.1038/nn.4085 10.1016/j.cell.2018.03.004 10.1016/j.cell.2018.03.002 10.1016/j.cell.2018.03.003 10.1002/ana.20902 10.1038/ng.2007.65 10.1016/j.ajhg.2019.05.003 10.1007/s00439-019-01979-w 10.1146/annurev-biochem-062917-011901 10.1083/jcb.200206106 10.1074/mcp.M900038-MCP200 10.1083/jcb.148.4.635 10.1016/j.molcel.2020.11.032 10.1038/msb.2013.4 10.1073/pnas.1719398115 10.1371/journal.pone.0036137 10.1371/journal.pone.0148876 10.7554/eLife.55963 10.1073/pnas.92.6.2008 10.1091/mbc.7.9.1319 10.1073/pnas.92.14.6532 10.1083/jcb.131.3.571 10.1083/jcb.123.6.1649 10.1038/365661a0 10.1073/pnas.91.21.10212 10.1073/pnas.92.10.4318 10.1038/354080a0 10.1021/bi00002a031 10.1016/j.cell.2016.01.034 10.1080/19491034.2016.1238997 10.1038/s41467-020-18266-2 10.1093/nar/gkaa919 10.1091/mbc.10.3.649 10.1038/s41598-017-08837-7 10.1083/jcb.134.5.1141 10.1091/mbc.e05-08-0715 10.1074/jbc.M112.378893 10.1016/S0092-8674(02)00836-X 10.1038/sj.emboj.7600843 10.1128/MCB.20.15.5619-5630.2000 10.1091/mbc.e14-04-0865 10.1038/s41467-020-16394-3 10.1016/j.cell.2009.12.054 10.1016/j.molcel.2019.10.017 10.1016/j.celrep.2014.09.002 10.1371/journal.pgen.1000846 10.1038/embor.2009.147 10.4161/nucl.19674 10.1080/19491034.2017.1395542 10.1016/bs.ircmb.2015.07.010 10.1146/annurev-biophys-052118-115308 10.1101/gad.256495.114 10.1016/j.ceb.2019.04.001 10.1111/ene.14393 10.1038/s41582-021-00487-8 10.1007/s11910-996-0019-6 10.1212/01.wnl.0000277422.11236.2c 10.1016/j.neuron.2011.09.011 10.1016/j.neuron.2011.09.010 10.1126/science.1166066 10.1126/science.1154584 10.1038/nature11280 10.1038/nrneurol.2011.150 10.2174/156720511795563700 10.1016/j.neuron.2013.07.033 10.1126/science.1134108 10.7554/eLife.51685 10.1093/hmg/ddw432 10.1073/pnas.1615973114 10.1038/srep20877 10.7554/eLife.62718 10.1038/s41467-021-25560-0 10.1038/s41598-019-52035-6 10.3390/brainsci11111543 10.3390/ijms22179217 10.1093/brain/awq111 10.1016/j.cell.2018.03.025 10.1007/s00401-017-1793-8 10.1186/s13024-019-0310-z 10.1038/nn.4272 10.1126/science.aav2606 10.1126/scitranslmed.abb3774 10.1016/j.neuron.2019.02.038 10.1126/science.1156947 10.1126/science.1256800 10.1083/jcb.122.3.513 10.1083/jcb.200601002 10.1186/s40478-021-01228-0 10.7554/eLife.45284 10.1083/jcb.201809123 10.1016/j.cell.2014.09.012 10.15252/embj.201694574 10.1091/mbc.e09-05-0397 10.1016/0753-3322(89)90106-6 10.1038/ng1195-230 10.1159/000051221 10.1038/nature05016 10.1038/nature05017 10.1186/s13024-019-0333-5 10.1016/j.neuron.2014.05.041 10.1038/nrdp.2015.56 10.1007/s11910-016-0707-9 10.1002/ana.21154 10.1073/pnas.83.13.4913 10.1212/01.wnl.0000304041.09418.b1 10.1073/pnas.83.11.4044 10.1073/pnas.83.11.4040 10.1007/BF01216709 10.1016/j.celrep.2018.12.085 10.1111/acel.12847 10.1016/j.cub.2015.11.039 10.1016/S0074-7696(03)01001-5 10.1038/nn.3639 10.1111/ene.13413 10.1016/S1474-4422(10)70245-3 10.1016/j.neuron.2015.10.038 10.1126/science.aad2033 10.1083/jcb.202001064 10.1186/s40478-021-01150-5 10.1038/383357a0 10.1073/pnas.91.7.2587 10.1073/pnas.92.5.1749 10.1083/jcb.152.2.411 10.1128/MCB.24.6.2373-2384.2004 10.1093/emboj/16.4.807 10.1016/j.celrep.2015.04.030 10.1007/s00418-018-1748-8 10.1038/ejhg.2016.25 10.1074/jbc.M111.299321 10.1038/ncb1424 10.1016/j.cell.2013.09.023 10.3390/cells9081884 10.1038/6799 10.1126/science.1084125 10.1086/339274 10.1038/ng1872 10.5483/BMBRep.2018.51.7.113 10.1111/febs.15526 10.1016/j.cell.2008.11.037 10.1126/science.1217421 10.1016/j.cell.2013.07.037 10.1038/ncb1184 10.1016/0014-4886(87)90314-1 10.1016/0047-6374(90)90159-D 10.1016/j.stem.2015.09.001 10.1016/S0006-291X(02)00492-8 10.1016/bs.ircmb.2017.07.013 10.1016/j.ceb.2017.02.001 10.1083/jcb.201603053 10.1038/s41467-018-04252-2 10.1002/jcp.27476 10.1093/hmg/ddaa106 10.1007/s13311-013-0194-5 10.1016/j.neuron.2017.04.010 10.1016/j.neuron.2013.10.015 10.1073/pnas.1318835110 10.1101/gad.280941.116 10.1038/nrn3121 10.15252/embj.2020104467 10.1055/s-0030-1247516 10.1007/s00431-010-1222-7 10.1007/s00415-011-6115-9 10.1073/pnas.1031047100 10.1371/journal.pgen.1007845 10.1016/j.ajhg.2015.08.013 10.1136/jmedgenet-2016-104237 10.1016/j.cell.2008.10.022 10.1016/j.ajhg.2008.12.009 10.1093/brain/awt074 10.1093/hmg/ddab248 10.1038/nrm2928
Nature Reviews. Neurology; Coyne AN, Rothstein JD

Apr 30th, 2022 - The genetic underpinnings and end-stage pathological hallmarks of neurodegenerative diseases are increasingly well defined, but the cellular pathophysiology of disease initiation and propagation remains poorly understood, especially in sporadic fo...

Clinical Correlates of Depression and Suicidality in Huntington Disease: An Analysis of...
https://doi.org/10.1097/WNN.0000000000000301 10.3233/JHD-160206 10.1097/NMD.0b013e3181da852a 10.1038/ng0893-398 10.1016/j.parkreldis.2010.02.009 10.1038/nprot.2006.390 10.3390/ijms21228474 10.1016/j.jpsychores.2015.11.003 10.1136/jmg.30.4.293 10.1007/s00415-018-8837-4 10.1016/j.biopsych.2019.12.010 10.1016/j.jpsychires.2013.05.026 10.2217/nmt.11.45 10.1002/ajmg.1320240211 10.1016/0022-3956(75)90026-6 10.1097/YIC.0b013e3283348018 10.1007/s00415-018-9013-6 10.1016/j.jad.2011.10.031 10.1002/mds.870110204 10.1136/jnnp.2006.103309 10.1016/j.jad.2019.03.043 10.1503/jpn.100067 10.1176/jnp.10.3.314 10.1038/s41598-018-21243-x 10.1212/WNL.0000000000011893 10.3233/JHD-150164 10.1097/01.nmd.0000106004.67587.57 10.1176/jnp.13.3.342 10.1016/j.metabol.2005.01.014 10.1176/appi.ajp.162.4.725 10.1176/jnp.17.4.496 10.1186/1750-1172-5-40 10.1038/nrneurol.2014.24 10.1136/jnnp.47.12.1283 10.1037/a0029218 10.1192/bjp.132.2.164 10.1111/j.1600-0447.1983.tb09716.x 10.1136/jmg.29.12.911 10.1590/s1980-5764-2016dn1004002 10.1016/j.pscychresns.2012.01.002 10.1136/jnnp-2013-307343 10.4088/jcp.v69n1116 10.1176/jnp.2007.19.4.441 10.1016/j.jad.2017.11.074 10.3233/JHD-180299 10.1016/j.psychres.2011.05.006
Cognitive and Behavioral Neurology : Official Journal of ... Rocha NP, Tuazon MR et. al.

Apr 30th, 2022 - Depression and suicidality are commonly experienced by Huntington disease (HD) gene carriers. Research on these behavioral symptoms is imperative, not only to increase our understanding of the symptoms and how they relate to HD, but also to contri...

Hunting out the autophagic problem in Huntington disease.
https://doi.org/10.1080/15548627.2022.2069438
Autophagy Pircs K, Barker RA et. al.

Apr 26th, 2022 - Huntington disease is an inherited, progressive, incurable neurodegenerative disorder that primarily affects cells in the brain. Although the genetic basis for this condition has been known for nearly 30 years, how this causes disease is still unr...

Altered cortical processing of sensory input in Huntington disease mouse models.
https://doi.org/10.1016/j.nbd.2022.105740
Neurobiology of Disease; Sepers MD, Mackay JP et. al.

Apr 24th, 2022 - Huntington disease (HD), a hereditary neurodegenerative disorder, manifests as progressively impaired movement and cognition. Although early abnormalities of neuronal activity in striatum are well established in HD models, there are fewer in vivo ...

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Guidelines  1 results

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical...
https://doi.org/10.1038/gim.2014.146
Genetics in Medicine : Official Journal of the American C... Bean L, Bayrak-Toydemir P

Oct 31st, 2014 - Huntington disease is an autosomal-dominant neurodegenerative disease of mid-life onset caused by expansion of a polymorphic trinucleotide (CAG) repeat. Variable penetrance for alleles carrying 36-39 repeats has been noted, but the disease appears...

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Drugs  2 results see all →

Clinicaltrials.gov  14 results

Within Subject Crossover Study of Cognitive Effects of Neflamapimod in Early-Stage Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT03980938

Apr 6th, 2022 - The study was designed as within-subject crossover study. However, due to the Covid19 lockdowns and restrictions on clinical research, and only one subject entered the second crossover period. As a result, the baseline and outcomes are reported by...

Safety and Efficacy of AMT-130 in European Adults With Early Manifest Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT05243017

Feb 18th, 2022 - The aim of the European study is to build upon the safety demonstrated in the first human dose (FHD) randomized, double blind, sham-controlled sequential dose escalation study (CT-AMT-130-01; clinicaltrials.gov NCT04120493) being conducted in the ...

Impact of Deutetrabenazine on Functional Speech and Gait Dynamics in Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT04713982

Dec 28th, 2021 - This is a two-year, prospective, single-arm study examining the effects of deutetrabenazine on functional speech and gait impairment. Participants will undergo comprehensive evaluations of speech production, fine motor skills, gait, and balance bo...

Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Chorea Associated With Huntington Disease
https://clinicaltrials.gov/ct2/show/NCT04102579

Dec 15th, 2021 - This is a Phase 3, randomized, double-blind, placebo-controlled study to evaluate the efficacy, safety, and tolerability of valbenazine to treat chorea in subjects with Huntington disease.

Behavioural Problems in Huntington Disease : Analysis and Enhancement of Caregiver and Patient Experience
https://clinicaltrials.gov/ct2/show/NCT02218567

Oct 22nd, 2020 - The study hypothesis is that caregivers experience allows them to develop a lot of knowledge and know-how about behavioural problems in Huntington Disease and its consequences. The purpose of this study is to collect, describe and analyse caregive...

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News  37 results

Synthetic Triglyceride Shows Potential in Huntington Disease
https://www.medscape.com/viewarticle/959381

Sep 23rd, 2021 - The synthetic medium-chain triglyceride triheptanoin has shown potential to restore brain energy and decrease caudate atrophy in Huntington disease, and improved motor function for up to a year, according to data presented at the International Con...

Discovery of Schizophrenia Gene Could Advance Research, Therapies
https://www.medscape.com/viewarticle/948198

Mar 26th, 2021 - Todd Lencz, PhD A new genetic mutation in schizophrenia that blocks neuron communication in the brain may lead to novel treatment strategies and improve understanding of the mechanics of this disease. The discovery of this new gene, PCDHA3, could ...

Posttraumatic Stress Disorder-Associated Cognitive Deficits on the Repeatable Battery for the Assessment of Neuropsychological Status in a Veteran Population
https://www.mdedge.com/fedprac/article/234319/ptsd
Nathan Hantke, PhD, ABPP-CN*, Maheen M. Adamson, PhD* et. al.

Jan 7th, 2021 - Posttraumatic stress disorder (PTSD) affects about 10 to 25% of veterans in the US and is associated with reductions in quality of life and poor occupational functioning. 1,2 PTSD is often associated with multiple cognitive deficits that play a rol.

Certifying Medical Cannabis: What APRNs Need to Know
https://www.medscape.com/viewarticle/943249

Jan 5th, 2021 - A patient asks an advanced practice registered nurse (APRN) to approve them for "medical marijuana." What are the clinician's responsibilities? The first hurdle is legal. In 18 states, an APRN has the legal authority to certify a patient to use ma...

A 12-Year-Old Boy With Repetitive Motions: Osmosis USMLE Study Question
https://www.medscape.com/viewarticle/892702_2

Sep 18th, 2020 - The patient is American soccer star Tim Howard, who has Tourette syndrome (TS). He was diagnosed with TS in the sixth grade and used sports to focus. Coprolalia is the involuntary swearing or utterance of obscene words or socially inappropriate an...

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Patient Education  1 results see all →