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Amyotrophic Lateral Sclerosis, Dominant

MedGen UID:
893510
Concept ID:
CN239175
Disease or Syndrome

Professional guidelines

PubMed

Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang AK, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V
Clin Genet 2018 Jan;93(1):119-125. doi: 10.1111/cge.13095. PMID: 28692196Free PMC Article
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

De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R
Cerebellum 2024 Jun;23(3):1176-1183. Epub 2023 Sep 12 doi: 10.1007/s12311-023-01600-x. PMID: 37698771Free PMC Article
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
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
Panza F, Lozupone M, Seripa D, Daniele A, Watling M, Giannelli G, Imbimbo BP
Nat Rev Neurol 2020 Apr;16(4):213-228. Epub 2020 Mar 23 doi: 10.1038/s41582-020-0330-x. PMID: 32203398
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
Aronin N, DiFiglia M
Mov Disord 2014 Sep 15;29(11):1455-61. Epub 2014 Aug 27 doi: 10.1002/mds.26020. PMID: 25164989
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116

Prognosis

Liu K, Guo Q, Ding Y, Luo L, Huang J, Zhang Q
Chin Med J (Engl) 2024 Jan 20;137(2):162-171. Epub 2023 Jul 21 doi: 10.1097/CM9.0000000000002701. PMID: 37482646Free PMC Article
Dorn GW 2nd, Dang X
Cells 2022 Mar 19;11(6) doi: 10.3390/cells11061049. PMID: 35326500Free PMC Article
Lehky T, Grunseich C
Genes (Basel) 2021 Nov 30;12(12) doi: 10.3390/genes12121935. PMID: 34946884Free PMC Article
Kurz AF
Int Psychogeriatr 2005;17 Suppl 1:S35-49. doi: 10.1017/s1041610205001936. PMID: 16240482
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116

Clinical prediction guides

Shammas MK, Nie Y, Gilsrud A, Huang X, Narendra DP, Chinnery PF
Hum Mol Genet 2023 Dec 12;33(1):91-101. doi: 10.1093/hmg/ddad161. PMID: 37815936Free PMC Article
Dorn GW 2nd, Dang X
Cells 2022 Mar 19;11(6) doi: 10.3390/cells11061049. PMID: 35326500Free 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
Gaiani A, Martinelli I, Bello L, Querin G, Puthenparampil M, Ruggero S, Toffanin E, Cagnin A, Briani C, Pegoraro E, Sorarù G
JAMA Neurol 2017 May 1;74(5):525-532. doi: 10.1001/jamaneurol.2016.5398. PMID: 28264096Free PMC Article
Bredesen DE, Wiedau-Pazos M, Goto JJ, Rabizadeh S, Roe JA, Gralla EB, Ellerby LM, Valentine JS
Neurology 1996 Oct;47(4 Suppl 2):S36-8; discussion S38-9. doi: 10.1212/wnl.47.4_suppl_2.36s. PMID: 8858049

Recent systematic reviews

De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R
Cerebellum 2024 Jun;23(3):1176-1183. Epub 2023 Sep 12 doi: 10.1007/s12311-023-01600-x. PMID: 37698771Free PMC Article
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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    Clinical resources

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