Etiology
Manganelli F,
Fabrizi GM,
Luigetti M,
Mandich P,
Mazzeo A,
Pareyson D
Neurol Sci
2022 Dec;43(Suppl 2):595-604.
Epub 2020 Nov 14
doi: 10.1007/s10072-020-04889-2.
PMID: 33188616Free PMC Article
Adams D,
Polydefkis M,
González-Duarte A,
Wixner J,
Kristen AV,
Schmidt HH,
Berk JL,
Losada López IA,
Dispenzieri A,
Quan D,
Conceição IM,
Slama MS,
Gillmore JD,
Kyriakides T,
Ajroud-Driss S,
Waddington-Cruz M,
Mezei MM,
Planté-Bordeneuve V,
Attarian S,
Mauricio E,
Brannagan TH 3rd,
Ueda M,
Aldinc E,
Wang JJ,
White MT,
Vest J,
Berber E,
Sweetser MT,
Coelho T;
patisiran Global OLE study group
Lancet Neurol
2021 Jan;20(1):49-59.
Epub 2020 Nov 16
doi: 10.1016/S1474-4422(20)30368-9.
PMID: 33212063
Bart NK,
Thomas L,
Korczyk D,
Atherton JJ,
Stewart GJ,
Fatkin D
Heart Lung Circ
2020 Apr;29(4):575-583.
Epub 2019 Dec 17
doi: 10.1016/j.hlc.2019.11.019.
PMID: 32001152
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Maurer MS,
Bokhari S,
Damy T,
Dorbala S,
Drachman BM,
Fontana M,
Grogan M,
Kristen AV,
Lousada I,
Nativi-Nicolau J,
Cristina Quarta C,
Rapezzi C,
Ruberg FL,
Witteles R,
Merlini G
Circ Heart Fail
2019 Sep;12(9):e006075.
Epub 2019 Sep 4
doi: 10.1161/CIRCHEARTFAILURE.119.006075.
PMID: 31480867Free PMC Article
Diagnosis
Manganelli F,
Fabrizi GM,
Luigetti M,
Mandich P,
Mazzeo A,
Pareyson D
Neurol Sci
2022 Dec;43(Suppl 2):595-604.
Epub 2020 Nov 14
doi: 10.1007/s10072-020-04889-2.
PMID: 33188616Free PMC Article
Griffin JM,
Rosenblum H,
Maurer MS
Circ Res
2021 May 14;128(10):1554-1575.
Epub 2021 May 13
doi: 10.1161/CIRCRESAHA.121.318187.
PMID: 33983835Free PMC Article
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
Maurer MS,
Bokhari S,
Damy T,
Dorbala S,
Drachman BM,
Fontana M,
Grogan M,
Kristen AV,
Lousada I,
Nativi-Nicolau J,
Cristina Quarta C,
Rapezzi C,
Ruberg FL,
Witteles R,
Merlini G
Circ Heart Fail
2019 Sep;12(9):e006075.
Epub 2019 Sep 4
doi: 10.1161/CIRCHEARTFAILURE.119.006075.
PMID: 31480867Free PMC Article
Donnelly JP,
Hanna M
Cleve Clin J Med
2017 Dec;84(12 Suppl 3):12-26.
doi: 10.3949/ccjm.84.s3.02.
PMID: 29257735
Therapy
Garcia-Pavia P,
Aus dem Siepen F,
Donal E,
Lairez O,
van der Meer P,
Kristen AV,
Mercuri MF,
Michalon A,
Frost RJA,
Grimm J,
Nitsch RM,
Hock C,
Kahr PC,
Damy T
N Engl J Med
2023 Jul 20;389(3):239-250.
Epub 2023 May 20
doi: 10.1056/NEJMoa2303765.
PMID: 37212440
Brannagan TH 3rd,
Berk JL,
Gillmore JD,
Maurer MS,
Waddington-Cruz M,
Fontana M,
Masri A,
Obici L,
Brambatti M,
Baker BF,
Hannan LA,
Buchele G,
Viney NJ,
Coelho T,
Nativi-Nicolau J
J Peripher Nerv Syst
2022 Dec;27(4):228-237.
Epub 2022 Nov 16
doi: 10.1111/jns.12519.
PMID: 36345805Free PMC Article
Griffin JM,
Rosenblum H,
Maurer MS
Circ Res
2021 May 14;128(10):1554-1575.
Epub 2021 May 13
doi: 10.1161/CIRCRESAHA.121.318187.
PMID: 33983835Free PMC Article
Adams D,
Polydefkis M,
González-Duarte A,
Wixner J,
Kristen AV,
Schmidt HH,
Berk JL,
Losada López IA,
Dispenzieri A,
Quan D,
Conceição IM,
Slama MS,
Gillmore JD,
Kyriakides T,
Ajroud-Driss S,
Waddington-Cruz M,
Mezei MM,
Planté-Bordeneuve V,
Attarian S,
Mauricio E,
Brannagan TH 3rd,
Ueda M,
Aldinc E,
Wang JJ,
White MT,
Vest J,
Berber E,
Sweetser MT,
Coelho T;
patisiran Global OLE study group
Lancet Neurol
2021 Jan;20(1):49-59.
Epub 2020 Nov 16
doi: 10.1016/S1474-4422(20)30368-9.
PMID: 33212063
Adams D,
Slama M
Curr Opin Neurol
2020 Oct;33(5):553-561.
doi: 10.1097/WCO.0000000000000852.
PMID: 32796279
Prognosis
Porcari A,
Razvi Y,
Masi A,
Patel R,
Ioannou A,
Rauf MU,
Hutt DF,
Rowczenio D,
Gilbertson J,
Martinez-Naharro A,
Venneri L,
Whelan C,
Lachmann H,
Wechalekar A,
Quarta CC,
Merlo M,
Sinagra G,
Hawkins PN,
Fontana M,
Gillmore JD
Eur J Heart Fail
2023 Apr;25(4):515-524.
Epub 2023 Jan 30
doi: 10.1002/ejhf.2776.
PMID: 36644836
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Bart NK,
Thomas L,
Korczyk D,
Atherton JJ,
Stewart GJ,
Fatkin D
Heart Lung Circ
2020 Apr;29(4):575-583.
Epub 2019 Dec 17
doi: 10.1016/j.hlc.2019.11.019.
PMID: 32001152
Maurer MS,
Bokhari S,
Damy T,
Dorbala S,
Drachman BM,
Fontana M,
Grogan M,
Kristen AV,
Lousada I,
Nativi-Nicolau J,
Cristina Quarta C,
Rapezzi C,
Ruberg FL,
Witteles R,
Merlini G
Circ Heart Fail
2019 Sep;12(9):e006075.
Epub 2019 Sep 4
doi: 10.1161/CIRCHEARTFAILURE.119.006075.
PMID: 31480867Free 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
Porcari A,
Razvi Y,
Masi A,
Patel R,
Ioannou A,
Rauf MU,
Hutt DF,
Rowczenio D,
Gilbertson J,
Martinez-Naharro A,
Venneri L,
Whelan C,
Lachmann H,
Wechalekar A,
Quarta CC,
Merlo M,
Sinagra G,
Hawkins PN,
Fontana M,
Gillmore JD
Eur J Heart Fail
2023 Apr;25(4):515-524.
Epub 2023 Jan 30
doi: 10.1002/ejhf.2776.
PMID: 36644836
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Adams D,
Polydefkis M,
González-Duarte A,
Wixner J,
Kristen AV,
Schmidt HH,
Berk JL,
Losada López IA,
Dispenzieri A,
Quan D,
Conceição IM,
Slama MS,
Gillmore JD,
Kyriakides T,
Ajroud-Driss S,
Waddington-Cruz M,
Mezei MM,
Planté-Bordeneuve V,
Attarian S,
Mauricio E,
Brannagan TH 3rd,
Ueda M,
Aldinc E,
Wang JJ,
White MT,
Vest J,
Berber E,
Sweetser MT,
Coelho T;
patisiran Global OLE study group
Lancet Neurol
2021 Jan;20(1):49-59.
Epub 2020 Nov 16
doi: 10.1016/S1474-4422(20)30368-9.
PMID: 33212063
Adams D,
Slama M
Curr Opin Neurol
2020 Oct;33(5):553-561.
doi: 10.1097/WCO.0000000000000852.
PMID: 32796279
Bart NK,
Thomas L,
Korczyk D,
Atherton JJ,
Stewart GJ,
Fatkin D
Heart Lung Circ
2020 Apr;29(4):575-583.
Epub 2019 Dec 17
doi: 10.1016/j.hlc.2019.11.019.
PMID: 32001152