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
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
Ando Y,
Coelho T,
Berk JL,
Cruz MW,
Ericzon BG,
Ikeda S,
Lewis WD,
Obici L,
Planté-Bordeneuve V,
Rapezzi C,
Said G,
Salvi F
Orphanet J Rare Dis
2013 Feb 20;8:31.
doi: 10.1186/1750-1172-8-31.
PMID: 23425518Free 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
Ando Y,
Coelho T,
Berk JL,
Cruz MW,
Ericzon BG,
Ikeda S,
Lewis WD,
Obici L,
Planté-Bordeneuve V,
Rapezzi C,
Said G,
Salvi F
Orphanet J Rare Dis
2013 Feb 20;8:31.
doi: 10.1186/1750-1172-8-31.
PMID: 23425518Free PMC Article
Therapy
Porcari A,
Cappelli F,
Nitsche C,
Tomasoni D,
Sinigiani G,
Longhi S,
Bordignon L,
Masri A,
Serenelli M,
Urey M,
Musumeci B,
Cipriani A,
Canepa M,
Badr-Eslam R,
Kronberger C,
Chimenti C,
Zampieri M,
Allegro V,
Razvi Y,
Patel R,
Ioannou A,
Rauf MU,
Petrie A,
Whelan C,
Emdin M,
Metra M,
Merlo M,
Sinagra G,
Hawkins PN,
Solomon SD,
Gillmore JD,
Fontana M
J Am Coll Cardiol
2024 Jun 18;83(24):2411-2422.
doi: 10.1016/j.jacc.2024.03.429.
PMID: 38866445
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
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
Coelho T,
Maurer MS,
Suhr OB
Curr Med Res Opin
2013 Jan;29(1):63-76.
Epub 2012 Dec 13
doi: 10.1185/03007995.2012.754348.
PMID: 23193944
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
Dyck PJB,
González-Duarte A,
Obici L,
Polydefkis M,
Wiesman JF,
Antonino I,
Litchy WJ,
Dyck PJ
J Neurol Sci
2019 Oct 15;405:116424.
Epub 2019 Aug 8
doi: 10.1016/j.jns.2019.116424.
PMID: 31445300
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
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
Dyck PJB,
González-Duarte A,
Obici L,
Polydefkis M,
Wiesman JF,
Antonino I,
Litchy WJ,
Dyck PJ
J Neurol Sci
2019 Oct 15;405:116424.
Epub 2019 Aug 8
doi: 10.1016/j.jns.2019.116424.
PMID: 31445300
Conceição I,
González-Duarte A,
Obici L,
Schmidt HH,
Simoneau D,
Ong ML,
Amass L
J Peripher Nerv Syst
2016 Mar;21(1):5-9.
doi: 10.1111/jns.12153.
PMID: 26663427Free PMC Article