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
Murala S,
Nagarajan E,
Bollu PC
Neurol Sci
2021 Mar;42(3):883-894.
Epub 2021 Jan 13
doi: 10.1007/s10072-020-04981-7.
PMID: 33439395
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
Sadjadi R,
Walk D,
Burns J,
Muntoni F,
Ramchandren S,
Horvath R,
Johnson NE,
Züchner S,
Pareyson D,
Scherer SS,
Rossor AM,
Shy ME,
Reilly MM;
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain
2020 Dec 1;143(12):3589-3602.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
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
Murala S,
Nagarajan E,
Bollu PC
Neurol Sci
2021 Mar;42(3):883-894.
Epub 2021 Jan 13
doi: 10.1007/s10072-020-04981-7.
PMID: 33439395
Morena J,
Gupta A,
Hoyle JC
Int J Mol Sci
2019 Jul 12;20(14)
doi: 10.3390/ijms20143419.
PMID: 31336816Free PMC Article
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Therapy
Meyyazhagan A,
Kuchi Bhotla H,
Pappuswamy M,
Orlacchio A
Int J Mol Sci
2022 Jul 11;23(14)
doi: 10.3390/ijms23147665.
PMID: 35887006Free PMC Article
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
Sadjadi R,
Walk D,
Burns J,
Muntoni F,
Ramchandren S,
Horvath R,
Johnson NE,
Züchner S,
Pareyson D,
Scherer SS,
Rossor AM,
Shy ME,
Reilly MM;
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain
2020 Dec 1;143(12):3589-3602.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Morena J,
Gupta A,
Hoyle JC
Int J Mol Sci
2019 Jul 12;20(14)
doi: 10.3390/ijms20143419.
PMID: 31336816Free PMC Article
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
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
He J,
Liu XX,
Ma MM,
Lin JJ,
Fu J,
Chen YK,
Xu GR,
Xu LQ,
Fu ZF,
Xu D,
Chen WF,
Cao CY,
Shi Y,
Zeng YH,
Zhang J,
Chen XC,
Zhang RX,
Wang N,
Kennerson M,
Fan DS,
Chen WJ
Ann Neurol
2023 Feb;93(2):244-256.
Epub 2022 Sep 28
doi: 10.1002/ana.26501.
PMID: 36088542
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
Sadjadi R,
Walk D,
Burns J,
Muntoni F,
Ramchandren S,
Horvath R,
Johnson NE,
Züchner S,
Pareyson D,
Scherer SS,
Rossor AM,
Shy ME,
Reilly MM;
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain
2020 Dec 1;143(12):3589-3602.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Casasnovas C,
Cano LM,
Albertí A,
Céspedes M,
Rigo G
Foot Ankle Spec
2008 Dec;1(6):350-4.
Epub 2008 Oct 22
doi: 10.1177/1938640008326247.
PMID: 19825739
Gabreëls-Festen A
J Anat
2002 Apr;200(4):341-56.
doi: 10.1046/j.1469-7580.2002.00043.x.
PMID: 12090401Free 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
Chen YJ,
Wang MW,
Qiu YS,
Yuan RY,
Wang N,
Lin X,
Chen WJ
Mov Disord
2023 Sep;38(9):1750-1755.
Epub 2023 Jul 2
doi: 10.1002/mds.29522.
PMID: 37394769
He J,
Liu XX,
Ma MM,
Lin JJ,
Fu J,
Chen YK,
Xu GR,
Xu LQ,
Fu ZF,
Xu D,
Chen WF,
Cao CY,
Shi Y,
Zeng YH,
Zhang J,
Chen XC,
Zhang RX,
Wang N,
Kennerson M,
Fan DS,
Chen WJ
Ann Neurol
2023 Feb;93(2):244-256.
Epub 2022 Sep 28
doi: 10.1002/ana.26501.
PMID: 36088542
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
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
Sadjadi R,
Walk D,
Burns J,
Muntoni F,
Ramchandren S,
Horvath R,
Johnson NE,
Züchner S,
Pareyson D,
Scherer SS,
Rossor AM,
Shy ME,
Reilly MM;
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain
2020 Dec 1;143(12):3589-3602.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Auer-Grumbach M,
Toegel S,
Schabhüttl M,
Weinmann D,
Chiari C,
Bennett DLH,
Beetz C,
Klein D,
Andersen PM,
Böhme I,
Fink-Puches R,
Gonzalez M,
Harms MB,
Motley W,
Reilly MM,
Renner W,
Rudnik-Schöneborn S,
Schlotter-Weigel B,
Themistocleous AC,
Weishaupt JH,
Ludolph AC,
Wieland T,
Tao F,
Abreu L,
Windhager R,
Zitzelsberger M,
Strom TM,
Walther T,
Scherer SS,
Züchner S,
Martini R,
Senderek J
Am J Hum Genet
2016 Sep 1;99(3):607-623.
doi: 10.1016/j.ajhg.2016.07.008.
PMID: 27588448Free PMC Article