Etiology
Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS
Mol Genet Metab
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
PMID: 36796138
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
Hellmann MA,
Kakhlon O,
Landau EH,
Sadeh M,
Giladi N,
Schlesinger I,
Kidron D,
Abramsky O,
Reches A,
Argov Z,
Rabey JM,
Chapman J,
Rosenmann H,
Gal A,
Moshe Gomori J,
Meiner V,
Lossos A
J Neurol
2015 Oct;262(10):2346-51.
Epub 2015 Jul 21
doi: 10.1007/s00415-015-7859-4.
PMID: 26194201
Sampaolo S,
Esposito T,
Gianfrancesco F,
Napolitano F,
Lombardi L,
Lucà R,
Roperto F,
Di Iorio G
Neuromuscul Disord
2015 Mar;25(3):247-52.
Epub 2014 Nov 18
doi: 10.1016/j.nmd.2014.11.006.
PMID: 25544507
Diagnosis
Dugue AG,
Abreu NJ,
Pillai C,
Galetta SL,
Grossman SN
J Neuroophthalmol
2025 Mar 1;45(1):55-62.
Epub 2024 Aug 15
doi: 10.1097/WNO.0000000000002186.
PMID: 39143664Free PMC Article
Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS
Mol Genet Metab
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
PMID: 36796138
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
Hellmann MA,
Kakhlon O,
Landau EH,
Sadeh M,
Giladi N,
Schlesinger I,
Kidron D,
Abramsky O,
Reches A,
Argov Z,
Rabey JM,
Chapman J,
Rosenmann H,
Gal A,
Moshe Gomori J,
Meiner V,
Lossos A
J Neurol
2015 Oct;262(10):2346-51.
Epub 2015 Jul 21
doi: 10.1007/s00415-015-7859-4.
PMID: 26194201
Cafferty MS,
Lovelace RE,
Hays AP,
Servidei S,
Dimauro S,
Rowland LP
Muscle Nerve
1991 Feb;14(2):102-7.
doi: 10.1002/mus.880140203.
PMID: 1847989
Prognosis
Dugue AG,
Abreu NJ,
Pillai C,
Galetta SL,
Grossman SN
J Neuroophthalmol
2025 Mar 1;45(1):55-62.
Epub 2024 Aug 15
doi: 10.1097/WNO.0000000000002186.
PMID: 39143664Free PMC Article
Grunseich C,
Sarkar N,
Lu J,
Owen M,
Schindler A,
Calabresi PA,
Sumner CJ,
Roda RH,
Chaudhry V,
Lloyd TE,
Crawford TO,
Subramony SH,
Oh SJ,
Richardson P,
Tanji K,
Kwan JY,
Fischbeck KH,
Mankodi A
J Neurol Neurosurg Psychiatry
2021 Nov;92(11):1186-1196.
Epub 2021 Jun 8
doi: 10.1136/jnnp-2020-325437.
PMID: 34103343Free PMC Article
Sampaolo S,
Esposito T,
Gianfrancesco F,
Napolitano F,
Lombardi L,
Lucà R,
Roperto F,
Di Iorio G
Neuromuscul Disord
2015 Mar;25(3):247-52.
Epub 2014 Nov 18
doi: 10.1016/j.nmd.2014.11.006.
PMID: 25544507
Inoue S,
Ishii R,
Fukuda H,
Saitoh K,
Shimizu R
Can J Anaesth
1996 Dec;43(12):1257-9.
doi: 10.1007/BF03013436.
PMID: 8955978
Clinical prediction guides
Grunseich C,
Sarkar N,
Lu J,
Owen M,
Schindler A,
Calabresi PA,
Sumner CJ,
Roda RH,
Chaudhry V,
Lloyd TE,
Crawford TO,
Subramony SH,
Oh SJ,
Richardson P,
Tanji K,
Kwan JY,
Fischbeck KH,
Mankodi A
J Neurol Neurosurg Psychiatry
2021 Nov;92(11):1186-1196.
Epub 2021 Jun 8
doi: 10.1136/jnnp-2020-325437.
PMID: 34103343Free PMC Article
DiMauro S,
Spiegel R
Acta Myol
2011 Oct;30(2):96-102.
PMID: 22106711Free PMC Article