Etiology
Franco A,
Li J,
Kelly DP,
Hershberger RE,
Marian AJ,
Lewis RM,
Song M,
Dang X,
Schmidt AD,
Mathyer ME,
Edwards JR,
Strong CG,
Dorn GW
Elife
2023 Nov 1;12
doi: 10.7554/eLife.84235.
PMID: 37910431Free PMC Article
Hamedani AG,
Wilson JA,
Avery RA,
Scherer SS
J Neuroophthalmol
2021 Jun 1;41(2):233-238.
doi: 10.1097/WNO.0000000000000965.
PMID: 32441898
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
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.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Dankwa L,
Richardson J,
Motley WW,
Scavina M,
Courel S,
Bardakjian T,
Züchner S,
Scherer SS
Neuromuscul Disord
2019 Feb;29(2):134-137.
Epub 2018 Dec 21
doi: 10.1016/j.nmd.2018.12.008.
PMID: 30642740Free PMC Article
McCray BA,
Hurst W,
Crawford TO,
Lloyd TE
Muscle Nerve
2018 May;57(5):E126-E128.
Epub 2018 Jan 26
doi: 10.1002/mus.26047.
PMID: 29266326
Diagnosis
Franco A,
Li J,
Kelly DP,
Hershberger RE,
Marian AJ,
Lewis RM,
Song M,
Dang X,
Schmidt AD,
Mathyer ME,
Edwards JR,
Strong CG,
Dorn GW
Elife
2023 Nov 1;12
doi: 10.7554/eLife.84235.
PMID: 37910431Free PMC Article
Dorn GW 2nd,
Dang X
Cells
2022 Mar 19;11(6)
doi: 10.3390/cells11061049.
PMID: 35326500Free PMC Article
Gabel M,
Mitchell J,
Pramanik B,
Geraci A,
Harel A
J Neuroophthalmol
2021 Dec 1;41(4):e699-e702.
doi: 10.1097/WNO.0000000000001100.
PMID: 33110000
Hamedani AG,
Wilson JA,
Avery RA,
Scherer SS
J Neuroophthalmol
2021 Jun 1;41(2):233-238.
doi: 10.1097/WNO.0000000000000965.
PMID: 32441898
Dankwa L,
Richardson J,
Motley WW,
Scavina M,
Courel S,
Bardakjian T,
Züchner S,
Scherer SS
Neuromuscul Disord
2019 Feb;29(2):134-137.
Epub 2018 Dec 21
doi: 10.1016/j.nmd.2018.12.008.
PMID: 30642740Free PMC Article
Therapy
Shen S,
Picci C,
Ustinova K,
Benoy V,
Kutil Z,
Zhang G,
Tavares MT,
Pavlíček J,
Zimprich CA,
Robers MB,
Van Den Bosch L,
Bařinka C,
Langley B,
Kozikowski AP
J Med Chem
2021 Apr 22;64(8):4810-4840.
Epub 2021 Apr 8
doi: 10.1021/acs.jmedchem.0c02210.
PMID: 33830764
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
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.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
De Gioia R,
Citterio G,
Abati E,
Nizzardo M,
Bresolin N,
Comi GP,
Corti S,
Rizzo F
Mol Neurobiol
2020 Dec;57(12):5121-5129.
Epub 2020 Aug 27
doi: 10.1007/s12035-020-02081-3.
PMID: 32856204Free PMC Article
Rocha AG,
Franco A,
Krezel AM,
Rumsey JM,
Alberti JM,
Knight WC,
Biris N,
Zacharioudakis E,
Janetka JW,
Baloh RH,
Kitsis RN,
Mochly-Rosen D,
Townsend RR,
Gavathiotis E,
Dorn GW 2nd
Science
2018 Apr 20;360(6386):336-341.
doi: 10.1126/science.aao1785.
PMID: 29674596Free PMC Article
Prognosis
Abati E,
Manini A,
Velardo D,
Del Bo R,
Napoli L,
Rizzo F,
Moggio M,
Bresolin N,
Bellone E,
Bassi MT,
D'Angelo MG,
Comi GP,
Corti S
Sci Rep
2022 Apr 13;12(1):6181.
doi: 10.1038/s41598-022-10220-0.
PMID: 35418194Free PMC Article
Dorn GW 2nd,
Dang X
Cells
2022 Mar 19;11(6)
doi: 10.3390/cells11061049.
PMID: 35326500Free PMC Article
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
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.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Barbullushi K,
Abati E,
Rizzo F,
Bresolin N,
Comi GP,
Corti S
Mol Neurobiol
2019 Sep;56(9):6460-6471.
Epub 2019 Mar 4
doi: 10.1007/s12035-019-1533-2.
PMID: 30830587
Bombelli F,
Stojkovic T,
Dubourg O,
Echaniz-Laguna A,
Tardieu S,
Larcher K,
Amati-Bonneau P,
Latour P,
Vignal O,
Cazeneuve C,
Brice A,
Leguern E
JAMA Neurol
2014 Aug;71(8):1036-42.
doi: 10.1001/jamaneurol.2014.629.
PMID: 24957169
Clinical prediction guides
Abati E,
Manini A,
Velardo D,
Del Bo R,
Napoli L,
Rizzo F,
Moggio M,
Bresolin N,
Bellone E,
Bassi MT,
D'Angelo MG,
Comi GP,
Corti S
Sci Rep
2022 Apr 13;12(1):6181.
doi: 10.1038/s41598-022-10220-0.
PMID: 35418194Free PMC Article
Dorn GW 2nd,
Dang X
Cells
2022 Mar 19;11(6)
doi: 10.3390/cells11061049.
PMID: 35326500Free PMC Article
Pipis M,
Feely SME,
Polke JM,
Skorupinska M,
Perez L,
Shy RR,
Laura M,
Morrow JM,
Moroni I,
Pisciotta C,
Taroni F,
Vujovic D,
Lloyd TE,
Acsadi G,
Yum SW,
Lewis RA,
Finkel RS,
Herrmann DN,
Day JW,
Li J,
Saporta M,
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.
doi: 10.1093/brain/awaa323.
PMID: 33415332Free PMC Article
Beręsewicz M,
Charzewski Ł,
Krzyśko KA,
Kochański A,
Zabłocka B
Sci Rep
2018 Nov 15;8(1):16900.
doi: 10.1038/s41598-018-35133-9.
PMID: 30442897Free PMC Article
Bombelli F,
Stojkovic T,
Dubourg O,
Echaniz-Laguna A,
Tardieu S,
Larcher K,
Amati-Bonneau P,
Latour P,
Vignal O,
Cazeneuve C,
Brice A,
Leguern E
JAMA Neurol
2014 Aug;71(8):1036-42.
doi: 10.1001/jamaneurol.2014.629.
PMID: 24957169