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Amyotrophic Lateral Sclerosis, Dominant

MedGen UID:
893510
Concept ID:
CN239175
Disease or Syndrome

Professional guidelines

PubMed

Finegan E, Shing SLH, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Pender N, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P
Brain Imaging Behav 2021 Oct;15(5):2283-2296. Epub 2021 Jan 7 doi: 10.1007/s11682-020-00421-4. PMID: 33409820
Turner MR, Al-Chalabi A, Chio A, Hardiman O, Kiernan MC, Rohrer JD, Rowe J, Seeley W, Talbot K
J Neurol Neurosurg Psychiatry 2017 Dec;88(12):1042-1044. Epub 2017 Jun 22 doi: 10.1136/jnnp-2017-315995. PMID: 28642287Free PMC Article
Eskreis-Winkler S, Zhang Y, Zhang J, Liu Z, Dimov A, Gupta A, Wang Y
NMR Biomed 2017 Apr;30(4) Epub 2016 Dec 1 doi: 10.1002/nbm.3668. PMID: 27906525

Recent clinical studies

Etiology

Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Lehky T, Grunseich C
Genes (Basel) 2021 Nov 30;12(12) doi: 10.3390/genes12121935. PMID: 34946884Free PMC Article
Greaves CV, Rohrer JD
J Neurol 2019 Aug;266(8):2075-2086. Epub 2019 May 22 doi: 10.1007/s00415-019-09363-4. PMID: 31119452Free PMC Article
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116

Diagnosis

Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Masrori P, Van Damme P
Eur J Neurol 2020 Oct;27(10):1918-1929. Epub 2020 Jul 7 doi: 10.1111/ene.14393. PMID: 32526057Free PMC Article
Greaves CV, Rohrer JD
J Neurol 2019 Aug;266(8):2075-2086. Epub 2019 May 22 doi: 10.1007/s00415-019-09363-4. PMID: 31119452Free PMC Article
Deleon J, Miller BL
Handb Clin Neurol 2018;148:409-430. doi: 10.1016/B978-0-444-64076-5.00027-2. PMID: 29478591

Therapy

Camu W, De La Cruz E, Esselin F
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):49-53. Epub 2022 Dec 8 doi: 10.1016/j.neurol.2022.10.001. PMID: 36503675
Thome J, Steinbach R, Grosskreutz J, Durstewitz D, Koppe G
Hum Brain Mapp 2022 Feb 1;43(2):681-699. Epub 2021 Oct 16 doi: 10.1002/hbm.25679. PMID: 34655259Free PMC Article
Choong CJ, Baba K, Mochizuki H
Expert Opin Biol Ther 2016;16(2):143-59. Epub 2015 Dec 5 doi: 10.1517/14712598.2016.1114096. PMID: 26642082
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116
Festoff BW
Drugs 1996 Jan;51(1):28-44. doi: 10.2165/00003495-199651010-00004. PMID: 8741231

Prognosis

Thome J, Steinbach R, Grosskreutz J, Durstewitz D, Koppe G
Hum Brain Mapp 2022 Feb 1;43(2):681-699. Epub 2021 Oct 16 doi: 10.1002/hbm.25679. PMID: 34655259Free PMC Article
Lehky T, Grunseich C
Genes (Basel) 2021 Nov 30;12(12) doi: 10.3390/genes12121935. PMID: 34946884Free PMC Article
Reid WK
Med Hypotheses 2021 Apr;149:110541. Epub 2021 Feb 15 doi: 10.1016/j.mehy.2021.110541. PMID: 33631494
Shafiq K, Sanghai N, Guo Y, Kong J
Geroscience 2021 Apr;43(2):507-515. Epub 2021 Feb 19 doi: 10.1007/s11357-021-00332-2. PMID: 33608813Free PMC Article
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116

Clinical prediction guides

Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B
Acta Neuropathol 2023 Jun;145(6):793-814. Epub 2023 Mar 31 doi: 10.1007/s00401-023-02565-1. PMID: 37000196Free PMC Article
Williams ET, Chen X, Otero PA, Moore DJ
Neurobiol Dis 2022 Aug;170:105768. Epub 2022 May 16 doi: 10.1016/j.nbd.2022.105768. PMID: 35588987Free PMC Article
Thome J, Steinbach R, Grosskreutz J, Durstewitz D, Koppe G
Hum Brain Mapp 2022 Feb 1;43(2):681-699. Epub 2021 Oct 16 doi: 10.1002/hbm.25679. PMID: 34655259Free PMC Article
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E
JAMA Neurol 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. PMID: 34459874Free PMC Article
Shafiq K, Sanghai N, Guo Y, Kong J
Geroscience 2021 Apr;43(2):507-515. Epub 2021 Feb 19 doi: 10.1007/s11357-021-00332-2. PMID: 33608813Free PMC Article

Recent systematic reviews

Gerges ANH, Hordacre B, Pietro FD, Moseley GL, Berryman C
J Stroke Cerebrovasc Dis 2022 Jul;31(7):106494. Epub 2022 Apr 23 doi: 10.1016/j.jstrokecerebrovasdis.2022.106494. PMID: 35472653
Wang MD, Gomes J, Cashman NR, Little J, Krewski D
PLoS One 2014;9(8):e105534. Epub 2014 Aug 22 doi: 10.1371/journal.pone.0105534. PMID: 25148523Free PMC Article

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