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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
Leoni, Tauana Bernardes, González‐Salazar, Carelis, Rezende, Thiago Junqueira R., Hernández, Ana Luisa C., Mattos, Alexandre Hilário B., Coimbra Neto, Antônio Rodrigues, Graça, Felipe Franco, Gonçalves, João Pedro Nunes, Martinez, Alberto R.M., Taniguti, Lucas, Kitajima, João Paulo, Kok, Fernando, Rogério, Fábio, Silva, André Macedo Serafim, Oliveira, Alexandre Leite Rodrigues, Zanoteli, Edmar, Nucci, Anamarli, França, Marcondes C.
Published in Annals of neurology (01.08.2021)
Published in Annals of neurology (01.08.2021)
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Journal Article
215P Evaluating the responsiveness of patient reported outcome measures (PROs) to change in valosin-containing protein multisystem proteinopathy (MSP1) over 24 months
Iammarino, M., Reash, N., Lowes, L., Pietruszewski, L., Adderley, K., Humphrey, L., Beale, A., Steiner, C., Smith, M., Alfano, L.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
P.179 Clinical trial readiness and validation of onsite and remote evaluation in valosin containing protein-associated multisystem proteinopathy
Alfano, L., Peck, A., Iammarino, M., Patel, S., Reash, N., Almomen, M., Mendell, J., Sabo, B., Long, A., Pietruszewski, L., Lowes, L., Peck, N.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
O06 Clinical trial readiness and validation of onsite and remote evaluation in valosin-containing protein-associated multisystem proteinopathy: a 24-month longitudinal study
Reash, N., Iammarino, M., Pietruszewski, L., Lowes, L., Mendell, J., Connolly, A., Adderley, K., Peck, N., Peck, A., Alfano, L.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
Yoo, Dallah, Lee, Wonjae, Lee, Seung‐Jae, Sung, Jung‐Joon, Jeon, Gye Sun, Ban, Jae‐Jun, Shin, Chaewon, Kim, Jungho, Kim, Hyo Sun, Ahn, Tae‐Beom
Published in Movement disorders (01.02.2022)
Published in Movement disorders (01.02.2022)
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Journal Article
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease
Brandmeir, Nicholas J., Geser, Felix, Kwong, Linda K., Zimmerman, Earl, Qian, Jiang, Lee, Virginia M.-Y., Trojanowski, John Q.
Published in Acta neuropathologica (01.01.2008)
Published in Acta neuropathologica (01.01.2008)
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Journal Article
Pathological 43-kDa Transactivation Response DNA-Binding Protein in Older Adults With and Without Severe Mental Illness
Geser, Felix, Robinson, John L, Malunda, Joseph A, Xie, Sharon X, Clark, Chris M, Kwong, Linda K, Moberg, Paul J, Moore, Erika M, Van Deerlin, Vivianna M, Lee, Virginia M.-Y, Arnold, Steven E, Trojanowski, John Q
Published in Archives of neurology (Chicago) (01.10.2010)
Published in Archives of neurology (Chicago) (01.10.2010)
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Journal Article
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions
Versluys, Lauren, Ervilha Pereira, Pedro, Schuermans, Nika, De Paepe, Boel, De Bleecker, Jan L., Bogaert, Elke, Dermaut, Bart
Published in Frontiers in neuroscience (03.02.2022)
Published in Frontiers in neuroscience (03.02.2022)
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Journal Article
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant
Ayaki, Takashi, Ito, Hidefumi, Fukushima, Hiroko, Inoue, Takeshi, Kondo, Takayuki, Ikemoto, Akito, Asano, Takeshi, Shodai, Akemi, Fujita, Takuji, Fukui, Satoshi, Morino, Hiroyuki, Nakano, Satoshi, Kusaka, Hirofumi, Yamashita, Hirofumi, Ihara, Masafumi, Matsumoto, Riki, Kawamata, Jun, Urushitani, Makoto, Kawakami, Hideshi, Takahashi, Ryosuke
Published in Acta neuropathologica communications (10.12.2014)
Published in Acta neuropathologica communications (10.12.2014)
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Journal Article
Pathological 43-kDa Transactivation Response DNA-Binding Protein in Older Adults With and Without Severe Mental Illness
Geser, Felix, Robinson, John L, Malunda, Joseph A, Xie, Sharon X, Clark, Chris M, Kwong, Linda K, Moberg, Paul J, Moore, Erika M, Van Deerlin, Vivianna M, Lee, Virginia M-Y, Arnold, Steven E, Trojanowski, John Q
Published in Archives of neurology (Chicago) (01.10.2010)
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Published in Archives of neurology (Chicago) (01.10.2010)
Journal Article