Plasma neurofilament light chain concentrations are elevated in youth‐onset type 2 diabetes and associated with neuropathy.

Autor: Fridman, Vera¹ vera.fridman@cuanschutz.edu, Sillau, Stefan¹, Ritchie, Alanna¹, Bockhorst, Jacob¹, Coughlan, Christina¹, Araya, Paula¹, Espinosa, Joaquin M.¹, Smith, Keith¹, Lange, Ethan M.¹, Lange, Leslie A.¹, Ghormli, Laure El², Drews, Kimberly L.², Zeitler, Philip¹, Reusch, Jane E. B.¹

Publikováno v: Journal of the Peripheral Nervous System. Sep2023, Vol. 28 Issue 3, p460-470. 11p.

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Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Autor: Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N., Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J.

Publikováno v: Annals of Neurology; Mar2023, Vol. 93 Issue 3, p563-576, 14p

Assessing non-Mendelian inheritance in inherited axonopathies

Autor: Bis-Brewer, Dana M, Gan-Or, Ziv, Tarnopolsky, Mark, Boycott, Kym M, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E, Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan, Sleiman, Patrick, Rodriguez, Aixa, Bacha, Alexa, Kosikowski, Ashley, Wood, Beth, McCray, Brett, Blume, Brianna, Siskind, Carly, Sumner, Charlotte, Calabrese, Daniela, Walk, David, Consortium, Inherited Neuropathy, Vujovic, Dragan, Park, Eun, Muntoni, Francesco, Donlevy, Gabrielle, Acsadi, Gyula, Day, John, Burns, Joshua, Li, Jun, Krajewski, Karen, Eichinger, Kate, Hakonarson, Hakon, Cornett, Kayla, Mullen, Krista, Perez, Laura, Gutmann, Laurie, Barrett, Maria, Saporta, Mario, Skorupinska, Mariola, Grant, Natalie, Bray, Paula, Seyedsadjadi, Reza, Fazal, Sarah, Zuccarino, Riccardo, Finkel, Richard, Lewis, Richard, Yum, Sabrina, Hilbert, Sarah, Thomas, Simone, Behrens-Spraggins, Steffen, Jones, Tara, Grider, Tiffany, Estilow, Tim, Courel, Steve, Fridman, Vera, Reilly, Mary M, Shy, Michael E, Bacon, Chelsea J, Feely, Shawna M E, Rossor, Alexander M, Herrmann, David N, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A

Publikováno v: Genetics in medicine 22(12), 2114-2119 (2020). doi:10.1038/s41436-020-0924-0
Genetics in medicine : official journal of the American College of Medical Genetics

Purpose: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia (HSP)) and peripheral (Charcot-Marie-Tooth type 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25bf234d0a13befa8fe2b2ef2e02958
https://pub.dzne.de/record/154375