Etiology
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free PMC Article
Newman NJ,
Biousse V
Eye (Lond)
2004 Nov;18(11):1144-60.
doi: 10.1038/sj.eye.6701591.
PMID: 15534600
Auer-Grumbach M
Drugs Today (Barc)
2004 May;40(5):385-94.
doi: 10.1358/dot.2004.40.5.850487.
PMID: 15319794
Keller MP,
Chance PF
Semin Neurol
1999;19(4):353-62.
doi: 10.1055/s-2008-1040850.
PMID: 10716658
Chance PF,
Reilly M
Curr Opin Neurol
1994 Oct;7(5):372-80.
doi: 10.1097/00019052-199410000-00002.
PMID: 7804455
Diagnosis
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
Finsterer J,
Iglseder S,
Wanschitz J,
Topakian R,
Löscher WN,
Grisold W
Acta Neurol Scand
2019 Feb;139(2):92-105.
Epub 2018 Oct 23
doi: 10.1111/ane.13035.
PMID: 30295933
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Auer-Grumbach M
Drugs Today (Barc)
2004 May;40(5):385-94.
doi: 10.1358/dot.2004.40.5.850487.
PMID: 15319794
Chance PF,
Reilly M
Curr Opin Neurol
1994 Oct;7(5):372-80.
doi: 10.1097/00019052-199410000-00002.
PMID: 7804455
Therapy
Sekijima Y,
Ueda M,
Koike H,
Misawa S,
Ishii T,
Ando Y
Orphanet J Rare Dis
2018 Jan 17;13(1):6.
doi: 10.1186/s13023-017-0726-x.
PMID: 29343286Free PMC Article
Bekircan-Kurt CE,
Güneş N,
Yılmaz A,
Erdem-Özdamar S,
Tan E
Neuromuscul Disord
2015 Sep;25(9):686-92.
Epub 2015 May 27
doi: 10.1016/j.nmd.2015.05.010.
PMID: 26115788
Debruyne J,
Dehaene I,
Martin JJ
J Neurol Sci
1980 Sep;47(3):385-94.
doi: 10.1016/0022-510x(80)90091-x.
PMID: 6932477
Prognosis
Ando Y,
Waddington-Cruz M,
Sekijima Y,
Koike H,
Ueda M,
Konishi H,
Ishii T,
Coelho T
Orphanet J Rare Dis
2023 Oct 12;18(1):323.
doi: 10.1186/s13023-023-02910-3.
PMID: 37828588Free PMC Article
Dardiotis E,
Kyriakides T
Curr Neuropharmacol
2023;21(3):471-481.
doi: 10.2174/1570159X21666221108094736.
PMID: 36366846Free PMC Article
Pareyson D,
Saveri P,
Sagnelli A,
Piscosquito G
Neurosci Lett
2015 Jun 2;596:66-77.
Epub 2015 Apr 3
doi: 10.1016/j.neulet.2015.04.001.
PMID: 25847151
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Chance PF,
Reilly M
Curr Opin Neurol
1994 Oct;7(5):372-80.
doi: 10.1097/00019052-199410000-00002.
PMID: 7804455
Clinical prediction guides
Ando Y,
Waddington-Cruz M,
Sekijima Y,
Koike H,
Ueda M,
Konishi H,
Ishii T,
Coelho T
Orphanet J Rare Dis
2023 Oct 12;18(1):323.
doi: 10.1186/s13023-023-02910-3.
PMID: 37828588Free PMC Article
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free 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
Auer-Grumbach M
Orphanet J Rare Dis
2008 Mar 18;3:7.
doi: 10.1186/1750-1172-3-7.
PMID: 18348718Free PMC Article
Newman NJ,
Biousse V
Eye (Lond)
2004 Nov;18(11):1144-60.
doi: 10.1038/sj.eye.6701591.
PMID: 15534600