Etiology
Zambon AA,
Pini V,
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Falzone YM,
Munot P,
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Brain
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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.
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Diagnosis
Zambon AA,
Pini V,
Bosco L,
Falzone YM,
Munot P,
Muntoni F,
Previtali SC
Brain
2023 Mar 1;146(3):806-822.
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Kramarz C,
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Rezaei Z,
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2020 Jan;20(1):65-84.
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Therapy
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2024 Aug 1;45(7):732-739.
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Bharucha-Goebel DX,
Norato G,
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Paredes E,
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Kaur R,
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Fink M,
Armao D,
Gray SJ,
Waite M,
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Averion G,
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Brain
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PMID: 34114613Free 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
Morena J,
Gupta A,
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Int J Mol Sci
2019 Jul 12;20(14)
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Prognosis
Cantarero L,
García-Vargas G,
Hoenicka J,
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Biol Open
2023 Apr 15;12(4)
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PMID: 36912213Free PMC Article
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Mol Genet Genomic Med
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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
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.
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PMID: 24957169
Casasnovas C,
Cano LM,
Albertí A,
Céspedes M,
Rigo G
Foot Ankle Spec
2008 Dec;1(6):350-4.
Epub 2008 Oct 22
doi: 10.1177/1938640008326247.
PMID: 19825739
Clinical prediction guides
Sadjadi R,
Picher-Martel V,
Morrow JM,
Thedens D,
DiCamillo PA,
McCray BA,
Pareyson D,
Herrmann DN,
Reilly MM,
Li J,
Castro D,
Shy ME;
Inherited Neuropathy Consortium
Neurology
2024 Sep 10;103(5):e209763.
Epub 2024 Aug 12
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PMID: 39133880Free PMC Article
Cantarero L,
García-Vargas G,
Hoenicka J,
Palau F
Biol Open
2023 Apr 15;12(4)
Epub 2023 Apr 3
doi: 10.1242/bio.059707.
PMID: 36912213Free PMC Article
Lu Y,
Xing H,
Liu C,
Huang D,
Sun C,
Yu M,
Meng L,
Lv H,
Zhang W,
Wang Z,
Yuan Y,
Xie Z
Pediatr Neurol
2023 Mar;140:25-34.
Epub 2022 Nov 24
doi: 10.1016/j.pediatrneurol.2022.11.013.
PMID: 36599231
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
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