A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

Autor: Sadr Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Rohani M; Department of Neurology, Hazrat Rasool Hospital, School of Medicines, Iran University of Medical Sciences, Tehran, Iran., Jamali P; Genetic Counseling Center, Shahroud, Iran., Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Publikováno v: The International journal of neuroscience [Int J Neurosci] 2024 Nov; Vol. 134 (11), pp. 1282-1287. Date of Electronic Publication: 2023 Sep 21.

Assessing non-Mendelian inheritance in inherited axonopathies

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

Publikováno v: In Genetics in Medicine December 2020 22(12):2114-2119

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A common theme for axonopathies? The dependency cycle of local axon homeostasis

Autor: Andreas Prokop

Publikováno v: Prokop, A 2021, ' A common theme for axonopathies? The dependency cycle of local axon homeostasis ', Cytoskeleton, vol. 78, no. 2, pp. 52-63 . https://doi.org/10.1002/cm.21657

The number of acquired or inherited conditions leading to axon degeneration (from now on referred to as axonopathies) is vast. To diagnose patients, clinicians use a range of indicators including physiology, morphology, family and patient history, as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84041f48923cdd4feca7d8632583c9d
https://pubmed.ncbi.nlm.nih.gov/33713552

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