Etiology
de Bruyn A,
Montagnese F,
Holm-Yildiz S,
Scharff Poulsen N,
Stojkovic T,
Behin A,
Palmio J,
Jokela M,
De Bleecker JL,
de Visser M,
van der Kooi AJ,
Ten Dam L,
Domínguez González C,
Maggi L,
Gallone A,
Kostera-Pruszczyk A,
Macias A,
Łusakowska A,
Nedkova V,
Olive M,
Álvarez-Velasco R,
Wanschitz J,
Paradas C,
Mavillard F,
Querin G,
Fernández-Eulate G,
Quinlivan R,
Walter MC,
Depuydt CE,
Udd B,
Vissing J,
Schoser B,
Claeys KG
Brain
2023 Sep 1;146(9):3800-3815.
doi: 10.1093/brain/awad088.
PMID: 36913258
Mahajan S,
Dhall A,
Jassal B,
Saluja A,
Faruq M,
Suri V,
Rajan R,
Vishnu VY,
Sharma MC
Neurol India
2022 Sep-Oct;70(5):2169-2173.
doi: 10.4103/0028-3886.359155.
PMID: 36352632
Seguí F,
Gonzalez-Quereda L,
Sanchez A,
Matas-García A,
Garrabou G,
Rodriguez MJ,
Gallano P,
Grau JM,
Milisenda JC
Neurol Sci
2020 Oct;41(10):2967-2971.
Epub 2020 May 12
doi: 10.1007/s10072-020-04453-y.
PMID: 32399949
Silva AMS,
Coimbra-Neto AR,
Souza PVS,
Winckler PB,
Gonçalves MVM,
Cavalcanti EBU,
Carvalho AADS,
Sobreira CFDR,
Camelo CG,
Mendonça RDH,
Estephan EDP,
Reed UC,
Machado-Costa MC,
Dourado-Junior MET,
Pereira VC,
Cruzeiro MM,
Helito PVP,
Aivazoglou LU,
Camargo LVD,
Gomes HH,
Camargo AJSD,
Pinto WBVDR,
Badia BML,
Libardi LH,
Yanagiura MT,
Oliveira ASB,
Nucci A,
Saute JAM,
França-Junior MC,
Zanoteli E
Ann Clin Transl Neurol
2019 Jul;6(7):1225-1238.
Epub 2019 Jun 11
doi: 10.1002/acn3.50801.
PMID: 31353849Free PMC Article
Ten Dam L,
van der Kooi AJ,
Rövekamp F,
Linssen WH,
de Visser M
Neuromuscul Disord
2014 Dec;24(12):1097-102.
Epub 2014 Aug 1
doi: 10.1016/j.nmd.2014.07.004.
PMID: 25176504
Diagnosis
Blagova O,
Lutokhina Y,
Vukolova M,
Pirozhkov S,
Sarkisova N,
Ainetdinova D,
Das A,
Krot M,
Smolyannikova V,
Litvitsky P,
Zaklyazminskaya E,
Kogan E
Genes (Basel)
2023 Jun 24;14(7)
doi: 10.3390/genes14071332.
PMID: 37510237Free PMC Article
de Bruyn A,
Montagnese F,
Holm-Yildiz S,
Scharff Poulsen N,
Stojkovic T,
Behin A,
Palmio J,
Jokela M,
De Bleecker JL,
de Visser M,
van der Kooi AJ,
Ten Dam L,
Domínguez González C,
Maggi L,
Gallone A,
Kostera-Pruszczyk A,
Macias A,
Łusakowska A,
Nedkova V,
Olive M,
Álvarez-Velasco R,
Wanschitz J,
Paradas C,
Mavillard F,
Querin G,
Fernández-Eulate G,
Quinlivan R,
Walter MC,
Depuydt CE,
Udd B,
Vissing J,
Schoser B,
Claeys KG
Brain
2023 Sep 1;146(9):3800-3815.
doi: 10.1093/brain/awad088.
PMID: 36913258
Mahajan S,
Dhall A,
Jassal B,
Saluja A,
Faruq M,
Suri V,
Rajan R,
Vishnu VY,
Sharma MC
Neurol India
2022 Sep-Oct;70(5):2169-2173.
doi: 10.4103/0028-3886.359155.
PMID: 36352632
Seguí F,
Gonzalez-Quereda L,
Sanchez A,
Matas-García A,
Garrabou G,
Rodriguez MJ,
Gallano P,
Grau JM,
Milisenda JC
Neurol Sci
2020 Oct;41(10):2967-2971.
Epub 2020 May 12
doi: 10.1007/s10072-020-04453-y.
PMID: 32399949
Prognosis
Srinivasan R,
Yun P,
Neuhaus S,
Mohassel P,
Dastgir J,
Donkervoort S,
Schindler A,
Mankodi A,
Foley AR,
Arai AE,
Bönnemann CG
Neuromuscul Disord
2020 Sep;30(9):742-749.
Epub 2020 Jul 24
doi: 10.1016/j.nmd.2020.07.001.
PMID: 32819793
Clinical prediction guides
de Bruyn A,
Montagnese F,
Holm-Yildiz S,
Scharff Poulsen N,
Stojkovic T,
Behin A,
Palmio J,
Jokela M,
De Bleecker JL,
de Visser M,
van der Kooi AJ,
Ten Dam L,
Domínguez González C,
Maggi L,
Gallone A,
Kostera-Pruszczyk A,
Macias A,
Łusakowska A,
Nedkova V,
Olive M,
Álvarez-Velasco R,
Wanschitz J,
Paradas C,
Mavillard F,
Querin G,
Fernández-Eulate G,
Quinlivan R,
Walter MC,
Depuydt CE,
Udd B,
Vissing J,
Schoser B,
Claeys KG
Brain
2023 Sep 1;146(9):3800-3815.
doi: 10.1093/brain/awad088.
PMID: 36913258
Seguí F,
Gonzalez-Quereda L,
Sanchez A,
Matas-García A,
Garrabou G,
Rodriguez MJ,
Gallano P,
Grau JM,
Milisenda JC
Neurol Sci
2020 Oct;41(10):2967-2971.
Epub 2020 May 12
doi: 10.1007/s10072-020-04453-y.
PMID: 32399949
Silva AMS,
Coimbra-Neto AR,
Souza PVS,
Winckler PB,
Gonçalves MVM,
Cavalcanti EBU,
Carvalho AADS,
Sobreira CFDR,
Camelo CG,
Mendonça RDH,
Estephan EDP,
Reed UC,
Machado-Costa MC,
Dourado-Junior MET,
Pereira VC,
Cruzeiro MM,
Helito PVP,
Aivazoglou LU,
Camargo LVD,
Gomes HH,
Camargo AJSD,
Pinto WBVDR,
Badia BML,
Libardi LH,
Yanagiura MT,
Oliveira ASB,
Nucci A,
Saute JAM,
França-Junior MC,
Zanoteli E
Ann Clin Transl Neurol
2019 Jul;6(7):1225-1238.
Epub 2019 Jun 11
doi: 10.1002/acn3.50801.
PMID: 31353849Free PMC Article