Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study von Tunca, Ceren, İşlek Camadan, Eylül Ece, Smolina, Natalia, Palvadeau, Robin J., Öztop Çakmak, Özgür, Vural, Atay, Traschütz, Andreas, Santorelli, Filippo M., Brais, Bernard, Schüle, Rebecca, Synofzik, Matthis, Başak, A. Nazlı

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MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study von Scaravilli, Alessandra, Negroni, Davide, Senatore, Claudio, Ugga, Lorenzo, Cosottini, Mirco, Ricca, Ivana, Bender, Benjamin, Traschütz, Andreas, Başak, Ayşe Nazli, Vural, Atay, van de Warrenburg, Bart P, Durr, Alexandra, La Piana, Roberta, Timmann, Dagmar, Schüle, Rebecca, Synofzik, Matthis, Santorelli, Filippo Maria, Cocozza, Sirio

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking von Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis von Johnson, Janel O, Chia, Ruth, Miller, Danny E, Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E, Topp, Simon D, Gibbs, J. Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Troakes, Claire, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P, Dobson-Stone, Carol, Kwok, John B, Bonkowski, Emily S, Palvadeau, Robin, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Brown, Robert H, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J, Perlman, Seth J, Glass, Ian, Scott, Anna, Shaw, Christopher E, Basak, A. Nazli, Landers, John E, Chio, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J

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