Etiology
Hesami O,
Ramezani M,
Ghasemi A,
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Basiri K,
Yue WW,
Sarkozy A,
Bertoli M,
Pitt M,
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Muntoni F,
Beeson D
Brain
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Beeson D,
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Curr Opin Neurol
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Diagnosis
Maselli RA,
Wei DT,
Hodgson TS,
Sampson JB,
Vazquez J,
Smith HL,
Pytel P,
Ferns M
Muscle Nerve
2021 Aug;64(2):219-224.
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Finsterer J
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Aharoni S,
Sadeh M,
Shapira Y,
Edvardson S,
Daana M,
Dor-Wollman T,
Mimouni-Bloch A,
Halevy A,
Cohen R,
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Argov Z,
Rabie M,
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Chervinsky I,
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Engel AG,
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Neuromuscul Disord
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Schara U,
Lochmüller H
Neurotherapeutics
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Beeson D,
Palace J,
Vincent A
Curr Opin Neurol
1997 Oct;10(5):402-7.
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Therapy
Hesami O,
Ramezani M,
Ghasemi A,
Fatehi F,
Okhovat AA,
Ziaadini B,
Kariminejad A,
Nafissi S
Orphanet J Rare Dis
2024 Mar 12;19(1):113.
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PMID: 38475910Free PMC Article
Al-Muhaizea MA,
AlQuait L,
AlRasheed A,
AlHarbi S,
Albader AA,
AlMass R,
Albakheet A,
Alhumaidan A,
AlRasheed MM,
Colak D,
Kaya N
Neuromuscul Disord
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Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
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Guven A,
Demirci M,
Anlar B
Pediatr Neurol
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Schara U,
Lochmüller H
Neurotherapeutics
2008 Oct;5(4):542-7.
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Prognosis
Hyde LF,
Kong Y,
Zhao L,
Rao SR,
Wang J,
Stone L,
Njaa A,
Collin GB,
Krebs MP,
Chang B,
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Badura-Stronka M,
Wojsyk-Banaszak I,
Sobkowiak P,
Bartkowska-Śniatkowska A,
Babak V,
Steinborn B
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Bauché S,
O'Regan S,
Azuma Y,
Laffargue F,
McMacken G,
Sternberg D,
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Topf A,
Lacène E,
Remerand G,
Beaufrere AM,
Pebrel-Richard C,
Thevenon J,
El Chehadeh-Djebbar S,
Faivre L,
Duffourd Y,
Ricci F,
Mongini T,
Fiorillo C,
Astrea G,
Burloiu CM,
Butoianu N,
Sandu C,
Servais L,
Bonne G,
Nelson I,
Desguerre I,
Nougues MC,
Bœuf B,
Romero N,
Laporte J,
Boland A,
Lechner D,
Deleuze JF,
Fontaine B,
Strochlic L,
Lochmuller H,
Eymard B,
Mayer M,
Nicole S
Am J Hum Genet
2016 Sep 1;99(3):753-761.
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Schara U,
Lochmüller H
Neurotherapeutics
2008 Oct;5(4):542-7.
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Beeson D,
Palace J,
Vincent A
Curr Opin Neurol
1997 Oct;10(5):402-7.
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Clinical prediction guides
Hyde LF,
Kong Y,
Zhao L,
Rao SR,
Wang J,
Stone L,
Njaa A,
Collin GB,
Krebs MP,
Chang B,
Fliesler SJ,
Nishina PM,
Naggert JK
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El Kadiri Y,
Ratbi I,
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BMC Neurol
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Bauché S,
O'Regan S,
Azuma Y,
Laffargue F,
McMacken G,
Sternberg D,
Brochier G,
Buon C,
Bouzidi N,
Topf A,
Lacène E,
Remerand G,
Beaufrere AM,
Pebrel-Richard C,
Thevenon J,
El Chehadeh-Djebbar S,
Faivre L,
Duffourd Y,
Ricci F,
Mongini T,
Fiorillo C,
Astrea G,
Burloiu CM,
Butoianu N,
Sandu C,
Servais L,
Bonne G,
Nelson I,
Desguerre I,
Nougues MC,
Bœuf B,
Romero N,
Laporte J,
Boland A,
Lechner D,
Deleuze JF,
Fontaine B,
Strochlic L,
Lochmuller H,
Eymard B,
Mayer M,
Nicole S
Am J Hum Genet
2016 Sep 1;99(3):753-761.
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PMID: 27569547Free PMC Article
Habbout K,
Poulin H,
Rivier F,
Giuliano S,
Sternberg D,
Fontaine B,
Eymard B,
Morales RJ,
Echenne B,
King L,
Hanna MG,
Männikkö R,
Chahine M,
Nicole S,
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Neurology
2016 Jan 12;86(2):161-9.
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Milhem RM,
Saadeldin IY,
Al-Jaibeji HS,
Al-Gazali L,
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Pediatr Neurol
2014 Jul;51(1):165-9.
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