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A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.

Neuropathology and applied neurobiology

Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY, Cardone N, Davis MR, Laing NG, Sternberg D, Ravenscroft G.
PMID: 34164833
Neuropathol Appl Neurobiol. 2021 Jun 23; doi: 10.1111/nan.12743. Epub 2021 Jun 23.

Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin-associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently,...

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Malfatti E, Catchpool T, Nouioua S, et al. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol. 2021;doi: 10.1111/nan.12743.
Malfatti, E., Catchpool, T., Nouioua, S., Sihem, H., Fournier, E., Carlier, R. Y., Cardone, N., Davis, M. R., Laing, N. G., Sternberg, D., & Ravenscroft, G. (2021). A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathology and applied neurobiology, . https://doi.org/10.1111/nan.12743
Malfatti, Edoardo, et al. "A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease." Neuropathology and applied neurobiology vol. (2021). doi: https://doi.org/10.1111/nan.12743
Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY, Cardone N, Davis MR, Laing NG, Sternberg D, Ravenscroft G. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol. 2021 Jun 23; doi: 10.1111/nan.12743. Epub 2021 Jun 23. PMID: 34164833.
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Impact of recurrence pattern in patients undergoing a second surgery for recurrent glioblastoma.

Acta neurologica Belgica

Pasqualetti F, Montemurro N, Desideri I, Loi M, Giannini N, Gadducci G, Malfatti G, Cantarella M, Gonnelli A, Montrone S, Visani L, Scatena C, Naccarato AG, Perrini P, Gambacciani C, Santonocito O, Morganti R, Paiar F.
PMID: 34396487
Acta Neurol Belg. 2021 Aug 16; doi: 10.1007/s13760-021-01765-4. Epub 2021 Aug 16.

The impact of different patterns of glioblastoma (GBM) recurrence has not yet been fully established in patients suitable for a second surgery. Through the present observational study carried out at Pisa University Hospital, we aimed to investigate how different...

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Pasqualetti F, Montemurro N, Desideri I, et al. Impact of recurrence pattern in patients undergoing a second surgery for recurrent glioblastoma. Acta Neurol Belg. 2021;doi: 10.1007/s13760-021-01765-4.
Pasqualetti, F., Montemurro, N., Desideri, I., Loi, M., Giannini, N., Gadducci, G., Malfatti, G., Cantarella, M., Gonnelli, A., Montrone, S., Visani, L., Scatena, C., Naccarato, A. G., Perrini, P., Gambacciani, C., Santonocito, O., Morganti, R., & Paiar, F. (2021). Impact of recurrence pattern in patients undergoing a second surgery for recurrent glioblastoma. Acta neurologica Belgica, . https://doi.org/10.1007/s13760-021-01765-4
Pasqualetti, Francesco, et al. "Impact of recurrence pattern in patients undergoing a second surgery for recurrent glioblastoma." Acta neurologica Belgica vol. (2021). doi: https://doi.org/10.1007/s13760-021-01765-4
Pasqualetti F, Montemurro N, Desideri I, Loi M, Giannini N, Gadducci G, Malfatti G, Cantarella M, Gonnelli A, Montrone S, Visani L, Scatena C, Naccarato AG, Perrini P, Gambacciani C, Santonocito O, Morganti R, Paiar F. Impact of recurrence pattern in patients undergoing a second surgery for recurrent glioblastoma. Acta Neurol Belg. 2021 Aug 16; doi: 10.1007/s13760-021-01765-4. Epub 2021 Aug 16. PMID: 34396487.
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Showing 85 to 86 of 86 entries