Etiology
Gupta S,
Joshi K,
Zaidi G,
Sarangi AN,
Mandal K,
Bhavani N,
Pavithran PV,
Pillai MG,
Singh SK,
Godbole T,
Bhatia V,
Bhatia E
J Pediatr Endocrinol Metab
2019 Aug 27;32(8):863-869.
doi: 10.1515/jpem-2018-0440.
PMID: 31219797
Allen NM,
Ewer A,
Nakou V,
Konstantoulaki E,
Wraige E,
Gowda V,
Jungbluth H
Pediatrics
2018 Apr;141(Suppl 5):S510-S514.
doi: 10.1542/peds.2017-2391.
PMID: 29610182
Fayssoil A,
Yaou RB,
Ogna A,
Leturcq F,
Nardi O,
Clair B,
Wahbi K,
Lofaso F,
Laforet P,
Duboc D,
Orlikowski D,
Annane D
ESC Heart Fail
2017 Nov;4(4):527-534.
Epub 2017 May 18
doi: 10.1002/ehf2.12165.
PMID: 29154419Free PMC Article
Reimers CD,
Schlotter B,
Eicke BM,
Witt TN
J Neurol Sci
1996 Nov;143(1-2):46-56.
doi: 10.1016/s0022-510x(96)00037-8.
PMID: 8981297
Punnett HH,
Zakai EH
Dev Med Child Neurol
1990 Sep;32(9):824-31.
doi: 10.1111/j.1469-8749.1990.tb08489.x.
PMID: 2227145
Diagnosis
Fratter C,
Dalgleish R,
Allen SK,
Santos R,
Abbs S,
Tuffery-Giraud S,
Ferlini A
Eur J Hum Genet
2020 Sep;28(9):1141-1159.
Epub 2020 May 18
doi: 10.1038/s41431-020-0643-7.
PMID: 32424326Free PMC Article
Parisi L,
Di Filippo T,
Glorioso P,
La Grutta S,
Epifanio MS,
Roccella M
Minerva Pediatr
2018 Jun;70(3):233-239.
doi: 10.23736/S0026-4946.16.04380-2.
PMID: 29795071
Allen NM,
Ewer A,
Nakou V,
Konstantoulaki E,
Wraige E,
Gowda V,
Jungbluth H
Pediatrics
2018 Apr;141(Suppl 5):S510-S514.
doi: 10.1542/peds.2017-2391.
PMID: 29610182
Rudnik-Schöneborn S,
Weis J,
Kress W,
Häusler M,
Zerres K
Neuromuscul Disord
2008 Nov;18(11):881-5.
Epub 2008 Aug 5
doi: 10.1016/j.nmd.2008.06.387.
PMID: 18684626
Cohen-Sobel E,
Darmochwal V,
Caselli M,
Najjar S,
Lambert C,
Cohen-Sobol E [corrected to Cohen-Sobel E]
J Am Podiatr Med Assoc
1994 Apr;84(4):181-8.
doi: 10.7547/87507315-84-4-181.
PMID: 8201552
Therapy
Noda S,
Murakami A,
Kimura S,
Minamiyama M,
Katsuno M,
Kuru S
Intern Med
2021 Dec 15;60(24):3983-3986.
Epub 2021 Jun 19
doi: 10.2169/internalmedicine.7248-21.
PMID: 34148958Free PMC Article
Lao YE,
Molden E,
Kringen MK,
Annexstad EJ,
Saeverud HA,
Jacobsen D,
Hovda KE
Basic Clin Pharmacol Toxicol
2020 Jul;127(1):47-51.
Epub 2020 Feb 5
doi: 10.1111/bcpt.13389.
PMID: 31977139
Pithukpakorn M
J Med Assoc Thai
2011 Feb;94 Suppl 1:S250-2.
PMID: 21721455
Kumar A,
Bhatnagar S,
Kumar A
Am J Pathol
2010 Jul;177(1):248-60.
Epub 2010 May 14
doi: 10.2353/ajpath.2010.091176.
PMID: 20472898Free PMC Article
Loke KY,
Poh LK,
Lee WW,
Lai PS
Horm Res
2009;71(5):298-304.
Epub 2009 Apr 1
doi: 10.1159/000208804.
PMID: 19339795
Prognosis
Gupta S,
Joshi K,
Zaidi G,
Sarangi AN,
Mandal K,
Bhavani N,
Pavithran PV,
Pillai MG,
Singh SK,
Godbole T,
Bhatia V,
Bhatia E
J Pediatr Endocrinol Metab
2019 Aug 27;32(8):863-869.
doi: 10.1515/jpem-2018-0440.
PMID: 31219797
Allen NM,
Ewer A,
Nakou V,
Konstantoulaki E,
Wraige E,
Gowda V,
Jungbluth H
Pediatrics
2018 Apr;141(Suppl 5):S510-S514.
doi: 10.1542/peds.2017-2391.
PMID: 29610182
Fayssoil A,
Yaou RB,
Ogna A,
Leturcq F,
Nardi O,
Clair B,
Wahbi K,
Lofaso F,
Laforet P,
Duboc D,
Orlikowski D,
Annane D
ESC Heart Fail
2017 Nov;4(4):527-534.
Epub 2017 May 18
doi: 10.1002/ehf2.12165.
PMID: 29154419Free PMC Article
Illarioshkin SN,
Ivanova-Smolenskaya IA,
Tanaka H,
Vereshchagin NV,
Markova ED,
Poleshchuk VV,
Lozhnikova SM,
Sukhorukov VS,
Limborska SA,
Slominsky PA,
Bulayeva KB,
Tsuji S
Brain
1996 Dec;119 ( Pt 6):1895-909.
doi: 10.1093/brain/119.6.1895.
PMID: 9009996
Gold R,
Kress W,
Meurers B,
Meng G,
Reichmann H,
Müller CR
Muscle Nerve
1992 Feb;15(2):214-8.
doi: 10.1002/mus.880150214.
PMID: 1549142
Clinical prediction guides
Xie Z,
Sun C,
Liu C,
Xie Z,
Wei L,
Yu J,
Ling C,
Guo X,
Liu Y,
Yu M,
Leng Y,
Meng L,
Sun Y,
Deng J,
Leal SM,
Schrauwen I,
Wang Z,
Yuan Y
J Neurol
2023 Feb;270(2):925-937.
Epub 2022 Nov 2
doi: 10.1007/s00415-022-11432-0.
PMID: 36319768
Parisi L,
Di Filippo T,
Glorioso P,
La Grutta S,
Epifanio MS,
Roccella M
Minerva Pediatr
2018 Jun;70(3):233-239.
doi: 10.23736/S0026-4946.16.04380-2.
PMID: 29795071
Fayssoil A,
Yaou RB,
Ogna A,
Leturcq F,
Nardi O,
Clair B,
Wahbi K,
Lofaso F,
Laforet P,
Duboc D,
Orlikowski D,
Annane D
ESC Heart Fail
2017 Nov;4(4):527-534.
Epub 2017 May 18
doi: 10.1002/ehf2.12165.
PMID: 29154419Free PMC Article
Jasmin G,
Tautu C,
Vanasse M,
Brochu P,
Simoneau R
Lab Invest
1984 Feb;50(2):197-207.
PMID: 6694359
Morizumi H,
Hizawa K,
Nunomura S,
Ii K
Acta Pathol Jpn
1984 Nov;34(6):1221-42.
doi: 10.1111/j.1440-1827.1984.tb00550.x.
PMID: 6524375