Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Autor: El-Bazzal L; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Rihan K; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Bernard-Marissal N; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Castro C; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Chouery-Khoury E; Unité de Génétique Médicale, Université Saint Joseph, Campus des Sciences Médicales, Beirut, Lebanon., Desvignes JP; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Atkinson A; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Bertaux K; Medical Genetics, Biological Resource Center-Tissue, DNA, Cells, CRB TAC, La Timone Children's Hospital, Marseille, France., Koussa S; Department of Neurology, Lebanese University Hospital-Geitaoui, Beirut, Lebanon., Lévy N; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France.; Department of Medical Genetics, Children's Hospital La Timone, Marseille, France., Bartoli M; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Mégarbané A; Centre Médical et Psychopédagogique, Beirut, Lebanon.; Institut Jérôme Lejeune, Paris, France., Jabbour R; Neurology Division, Department of Internal Medicine, St George Hospital University Medical Center, University of Balamand, Beirut, Lebanon., Delague V; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Jul 15; Vol. 28 (14), pp. 2378-2394.

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Autor: Silva, Daniela Pimenta¹ (AUTHOR) daniela.pims@gmail.com, Soeiro E Sá, Mariana² (AUTHOR), Silveira, Fernando³ (AUTHOR), Pinto, Susana⁴ (AUTHOR), Gromicho, Marta⁴ (AUTHOR), Sousa, Ana Berta² (AUTHOR), Leão, Miguel⁵ (AUTHOR), De Carvalho, Mamede^1,4 (AUTHOR)

Publikováno v: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2020, Vol. 21 Issue 3/4, p291-295. 5p.