Etiology
Najjar D,
Chikhaoui A,
Zarrouk S,
Azouz S,
Kamoun W,
Nassib N,
Bouchoucha S,
Yacoub-Youssef H
Genes (Basel)
2022 Sep 27;13(10)
doi: 10.3390/genes13101748.
PMID: 36292632Free PMC Article
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Sewry CA,
Wallgren-Pettersson C
Neuropathol Appl Neurobiol
2017 Feb;43(1):5-23.
doi: 10.1111/nan.12369.
PMID: 27976420
Ravenscroft G,
Miyatake S,
Lehtokari VL,
Todd EJ,
Vornanen P,
Yau KS,
Hayashi YK,
Miyake N,
Tsurusaki Y,
Doi H,
Saitsu H,
Osaka H,
Yamashita S,
Ohya T,
Sakamoto Y,
Koshimizu E,
Imamura S,
Yamashita M,
Ogata K,
Shiina M,
Bryson-Richardson RJ,
Vaz R,
Ceyhan O,
Brownstein CA,
Swanson LC,
Monnot S,
Romero NB,
Amthor H,
Kresoje N,
Sivadorai P,
Kiraly-Borri C,
Haliloglu G,
Talim B,
Orhan D,
Kale G,
Charles AK,
Fabian VA,
Davis MR,
Lammens M,
Sewry CA,
Manzur A,
Muntoni F,
Clarke NF,
North KN,
Bertini E,
Nevo Y,
Willichowski E,
Silberg IE,
Topaloglu H,
Beggs AH,
Allcock RJ,
Nishino I,
Wallgren-Pettersson C,
Matsumoto N,
Laing NG
Am J Hum Genet
2013 Jul 11;93(1):6-18.
Epub 2013 Jun 6
doi: 10.1016/j.ajhg.2013.05.004.
PMID: 23746549Free PMC Article
Taratuto AL
Curr Opin Neurol
2002 Oct;15(5):553-61.
doi: 10.1097/00019052-200210000-00006.
PMID: 12351999
Diagnosis
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Wallgren-Pettersson C,
Sewry CA,
Nowak KJ,
Laing NG
Semin Pediatr Neurol
2011 Dec;18(4):230-8.
doi: 10.1016/j.spen.2011.10.004.
PMID: 22172418
Pelin K,
Wallgren-Pettersson C
Adv Exp Med Biol
2008;642:28-39.
PMID: 19181091
Taratuto AL
Curr Opin Neurol
2002 Oct;15(5):553-61.
doi: 10.1097/00019052-200210000-00006.
PMID: 12351999
Wallgren-Pettersson C
Semin Pediatr Neurol
2002 Jun;9(2):132-44.
doi: 10.1053/spen.2002.33804.
PMID: 12138997
Therapy
Sparrow JC,
Nowak KJ,
Durling HJ,
Beggs AH,
Wallgren-Pettersson C,
Romero N,
Nonaka I,
Laing NG
Neuromuscul Disord
2003 Sep;13(7-8):519-31.
doi: 10.1016/s0960-8966(03)00101-9.
PMID: 12921789
Prognosis
Sewry CA,
Laitila JM,
Wallgren-Pettersson C
J Muscle Res Cell Motil
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
PMID: 31228046Free PMC Article
Abdulhaq UN,
Daana M,
Dor T,
Fellig Y,
Eylon S,
Schuelke M,
Shaag A,
Elpeleg O,
Edvardson S
Muscle Nerve
2016 Apr;53(4):564-9.
Epub 2015 Sep 3
doi: 10.1002/mus.24885.
PMID: 26296490
Wallgren-Pettersson C
Semin Pediatr Neurol
2002 Jun;9(2):132-44.
doi: 10.1053/spen.2002.33804.
PMID: 12138997
Ryan MM,
Schnell C,
Strickland CD,
Shield LK,
Morgan G,
Iannaccone ST,
Laing NG,
Beggs AH,
North KN
Ann Neurol
2001 Sep;50(3):312-20.
doi: 10.1002/ana.1080.
PMID: 11558787
Kondo K,
Yuasa T
Muscle Nerve
1980 Jul-Aug;3(4):308-15.
doi: 10.1002/mus.880030407.
PMID: 6997732
Clinical prediction guides
Madigan NN,
Polzin MJ,
Cui G,
Liewluck T,
Alsharabati MH,
Klein CJ,
Windebank AJ,
Mer G,
Milone M
Acta Neuropathol Commun
2021 Apr 29;9(1):79.
doi: 10.1186/s40478-021-01168-9.
PMID: 33926564Free PMC Article
Altuame FD,
Haldeman-Englert C,
Cupler E,
Al Muhaizea MA,
Al-Zaidan HI,
Hashem M,
Alkuraya FS
Am J Med Genet A
2021 Feb;185(2):370-376.
Epub 2020 Nov 11
doi: 10.1002/ajmg.a.61957.
PMID: 33179433
Park YE,
Shin JH,
Kang B,
Lee CH,
Kim DS
Muscle Nerve
2016 Mar;53(3):479-84.
Epub 2016 Jan 18
doi: 10.1002/mus.24966.
PMID: 26562614
Wallgren-Pettersson C,
Pelin K,
Hilpelä P,
Donner K,
Porfirio B,
Graziano C,
Swoboda KJ,
Fardeau M,
Urtizberea JA,
Muntoni F,
Sewry C,
Dubowitz V,
Iannaccone S,
Minetti C,
Pedemonte M,
Seri M,
Cusano R,
Lammens M,
Castagna-Sloane A,
Beggs AH,
Laing NG,
de la Chapelle A
Neuromuscul Disord
1999 Dec;9(8):564-72.
doi: 10.1016/s0960-8966(99)00061-9.
PMID: 10619714
Kondo K,
Yuasa T
Muscle Nerve
1980 Jul-Aug;3(4):308-15.
doi: 10.1002/mus.880030407.
PMID: 6997732