Etiology
Fink JK
Handb Clin Neurol
2023;196:59-88.
doi: 10.1016/B978-0-323-98817-9.00022-3.
PMID: 37620092
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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PMID: 36445400Free PMC Article
Murala S,
Nagarajan E,
Bollu PC
Neurol Sci
2021 Mar;42(3):883-894.
Epub 2021 Jan 13
doi: 10.1007/s10072-020-04981-7.
PMID: 33439395
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
Ruano L,
Melo C,
Silva MC,
Coutinho P
Neuroepidemiology
2014;42(3):174-83.
Epub 2014 Mar 5
doi: 10.1159/000358801.
PMID: 24603320
Diagnosis
Fink JK
Handb Clin Neurol
2023;196:59-88.
doi: 10.1016/B978-0-323-98817-9.00022-3.
PMID: 37620092
Zambon AA,
Pini V,
Bosco L,
Falzone YM,
Munot P,
Muntoni F,
Previtali SC
Brain
2023 Mar 1;146(3):806-822.
doi: 10.1093/brain/awac452.
PMID: 36445400Free PMC Article
Kramarz C,
Rossor AM
J Neurol
2022 Sep;269(9):5187-5191.
Epub 2022 May 21
doi: 10.1007/s00415-022-11164-1.
PMID: 35596796Free PMC Article
Murala S,
Nagarajan E,
Bollu PC
Neurol Sci
2021 Mar;42(3):883-894.
Epub 2021 Jan 13
doi: 10.1007/s10072-020-04981-7.
PMID: 33439395
Morena J,
Gupta A,
Hoyle JC
Int J Mol Sci
2019 Jul 12;20(14)
doi: 10.3390/ijms20143419.
PMID: 31336816Free PMC Article
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,
Bönnemann CG;
GAN Trial Team
N Engl J Med
2024 Mar 21;390(12):1092-1104.
doi: 10.1056/NEJMoa2307952.
PMID: 38507752
Meyyazhagan A,
Kuchi Bhotla H,
Pappuswamy M,
Orlacchio A
Int J Mol Sci
2022 Jul 11;23(14)
doi: 10.3390/ijms23147665.
PMID: 35887006Free PMC Article
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
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,
Hoyle JC
Int J Mol Sci
2019 Jul 12;20(14)
doi: 10.3390/ijms20143419.
PMID: 31336816Free PMC Article
Prognosis
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
Hentati F,
Hentati E,
Amouri R
Handb Clin Neurol
2013;115:933-8.
doi: 10.1016/B978-0-444-52902-2.00052-7.
PMID: 23931822
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
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Gabreëls-Festen A
J Anat
2002 Apr;200(4):341-56.
doi: 10.1046/j.1469-7580.2002.00043.x.
PMID: 12090401Free PMC Article
Clinical prediction guides
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.
doi: 10.1056/NEJMoa2307952.
PMID: 38507752
Pedroso JL,
Vale TC,
Freitas JL,
Araújo FMM,
Meira AT,
Neto PB,
França MC Junior,
Tumas V,
Teive HAG,
Barsottini OGP
Arq Neuropsiquiatr
2023 Nov;81(11):1000-1007.
Epub 2023 Nov 30
doi: 10.1055/s-0043-1777005.
PMID: 38035585Free PMC Article
Meyyazhagan A,
Kuchi Bhotla H,
Pappuswamy M,
Orlacchio A
Int J Mol Sci
2022 Jul 11;23(14)
doi: 10.3390/ijms23147665.
PMID: 35887006Free 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
Minnerop M,
Kurzwelly D,
Wagner H,
Soehn AS,
Reichbauer J,
Tao F,
Rattay TW,
Peitz M,
Rehbach K,
Giorgetti A,
Pyle A,
Thiele H,
Altmüller J,
Timmann D,
Karaca I,
Lennarz M,
Baets J,
Hengel H,
Synofzik M,
Atasu B,
Feely S,
Kennerson M,
Stendel C,
Lindig T,
Gonzalez MA,
Stirnberg R,
Sturm M,
Roeske S,
Jung J,
Bauer P,
Lohmann E,
Herms S,
Heilmann-Heimbach S,
Nicholson G,
Mahanjah M,
Sharkia R,
Carloni P,
Brüstle O,
Klopstock T,
Mathews KD,
Shy ME,
de Jonghe P,
Chinnery PF,
Horvath R,
Kohlhase J,
Schmitt I,
Wolf M,
Greschus S,
Amunts K,
Maier W,
Schöls L,
Nürnberg P,
Zuchner S,
Klockgether T,
Ramirez A,
Schüle R
Brain
2017 Jun 1;140(6):1561-1578.
doi: 10.1093/brain/awx095.
PMID: 28459997Free PMC Article