-
1دورية أكاديمية
المؤلفون: Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf
المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1146-1159 (2023)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
-
2
المؤلفون: Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk
المساهمون: Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Brain Imaging, Radiology and nuclear medicine
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Neurogenetics, 21(2), 121-133. Springer Verlag
Neurogenetics, 21(2), 121-133. Springer, Cham
Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4
Neurogenetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Superior cerebellar peduncle, Choreiform movement, Caudate nucleus, Lipoproteïnes, PHENOTYPE, 0302 clinical medicine, Basal ganglia, Malalties hereditàries, CATALYTIC SUBUNIT, 4H LEUKODYSTROPHY, Genetics (clinical), DIFFUSE HYPOMYELINATION, Dystonia, RECESSIVE MUTATIONS, Movement Disorders, Putamen, Brain, White Matter, medicine.anatomical_structure, Child, Preschool, Original Article, Female, CLINICAL SPECTRUM, Genetic disorders, Brainstem, Hypomyelination, MRI, Adult, medicine.medical_specialty, Lipoproteins, Striatum, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, business.industry, POLR3A, Leukodystrophy, Infant, RNA Polymerase III, medicine.disease, POLR3-RELATED LEUKODYSTROPHY, Neostriatum, 030104 developmental biology, Mutation, Inferior cerebellar peduncle, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf