Etiology
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Diagnosis
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Therapy
Bharucha-Goebel DX,
Todd JJ,
Saade D,
Norato G,
Jain M,
Lehky T,
Bailey RM,
Chichester JA,
Calcedo R,
Armao D,
Foley AR,
Mohassel P,
Tesfaye E,
Carlin BP,
Seremula B,
Waite M,
Zein WM,
Huryn LA,
Crawford TO,
Sumner CJ,
Hoke A,
Heiss JD,
Charnas L,
Hooper JE,
Bouldin TW,
Kang EM,
Rybin D,
Gray SJ,
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GAN Trial Team
N Engl J Med
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Stino AM,
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Muscle Nerve
2021 Feb;63(2):157-169.
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Lallemant-Dudek P,
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Rev Neurol (Paris)
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Prognosis
Sivera Mascaró R,
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Alonso Jiménez A,
Antelo Pose A,
Calabria Gallego MD,
Casasnovas C,
Cemillán Fernández CA,
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Gutiérrez Gutiérrez G,
Gutiérrez Martínez A,
Juntas Morales R,
Ciano-Petersen NL,
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Mederer Hengstl S,
Millet Sancho E,
Navacerrada Barrero FJ,
Navarrete Faubel FE,
Pardo Fernández J,
Pascual Pascual SI,
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Pino Mínguez J,
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Rodríguez Santiago B,
Rojas García R,
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Vicent Carsí V,
Sevilla Mantecón T
Neurologia (Engl Ed)
2025 Apr;40(3):290-305.
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Pipis M,
Feely SME,
Polke JM,
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Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
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Sadjadi R,
Walk D,
Burns J,
Muntoni F,
Ramchandren S,
Horvath R,
Johnson NE,
Züchner S,
Pareyson D,
Scherer SS,
Rossor AM,
Shy ME,
Reilly MM;
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain
2020 Dec 1;143(12):3589-3602.
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Klein CJ
Continuum (Minneap Minn)
2020 Oct;26(5):1224-1256.
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Hentati F,
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Lancet Neurol
2009 Jul;8(7):654-67.
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Clinical prediction guides
Tazir M,
Nouioua S
Rev Neurol (Paris)
2024 Dec;180(10):1031-1036.
Epub 2024 May 3
doi: 10.1016/j.neurol.2023.09.005.
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Bharucha-Goebel DX,
Todd JJ,
Saade D,
Norato G,
Jain M,
Lehky T,
Bailey RM,
Chichester JA,
Calcedo R,
Armao D,
Foley AR,
Mohassel P,
Tesfaye E,
Carlin BP,
Seremula B,
Waite M,
Zein WM,
Huryn LA,
Crawford TO,
Sumner CJ,
Hoke A,
Heiss JD,
Charnas L,
Hooper JE,
Bouldin TW,
Kang EM,
Rybin D,
Gray SJ,
Bönnemann CG;
GAN Trial Team
N Engl J Med
2024 Mar 21;390(12):1092-1104.
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PMID: 38507752Free PMC Article
Record CJ,
Skorupinska M,
Laura M,
Rossor AM,
Pareyson D,
Pisciotta C,
Feely SME,
Lloyd TE,
Horvath R,
Sadjadi R,
Herrmann DN,
Li J,
Walk D,
Yum SW,
Lewis RA,
Day J,
Burns J,
Finkel RS,
Saporta MA,
Ramchandren S,
Weiss MD,
Acsadi G,
Fridman V,
Muntoni F,
Poh R,
Polke JM,
Zuchner S,
Shy ME,
Scherer SS,
Reilly MM;
Inherited Neuropathies Consortium—Rare Disease Clinical Research Network
Brain
2023 Oct 3;146(10):4336-4349.
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PMID: 37284795Free PMC Article
Meyyazhagan A,
Orlacchio A
Int J Mol Sci
2022 Feb 1;23(3)
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PMID: 35163618Free PMC Article
Klein CJ
Continuum (Minneap Minn)
2020 Oct;26(5):1224-1256.
doi: 10.1212/CON.0000000000000927.
PMID: 33003000