المؤلفون: Philipp Guder, Ulrike Löbel, Britta Fiebig, Ilena Oppermann, Angelika Berger, Annette Bley

المصدر: Brain Disorders, Vol 2, Iss , Pp 100006- (2021)

مصطلحات موضوعية: Hypomyelinating leukodystrophy, Nkx6–2 gene, Spax8, Nystagmus, Developmental delay, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666459321000056; https://doaj.org/toc/2666-4593

URL الوصول: https://doaj.org/article/c82d41237df345758864c96cd1f0c965

المؤلفون: Chelban, V.G., Alsagob, M., Groppa, S.A.

المصدر: European Journal of Neurology 334-342

مصطلحات موضوعية: hypomyelination, leukodystrophy, NKX6-2, spastic ataxia 8, SPAX8

وصف الملف: application/pdf

Relation: https://ibn.idsi.md/vizualizare_articol/97893; urn:issn:13515101

الاتاحة: https://ibn.idsi.md/vizualizare_articol/97893
https://doi.org/10.1111/ene.14082

المؤلفون: Chelban, V, Alsagob, M, Kloth, K, Chirita-Emandi, A, Vandrovcova, J, Maroofian, R, Davagnanam, I, Bakhtiari, S, AlSayed, MD, Rahbeeni, Z, AlZaidan, H, Malintan, NT, Johannsen, J, Efthymiou, S, Ghayoor Karimiani, E, Mankad, K, Al-Shahrani, SA, Beiraghi Toosi, M, AlShammari, M, Groppa, S, Haridy, NA, AlQuait, L, Qari, A, Huma, R, Salih, MA, Almass, R, Almutairi, FB, Hamad, MH, Alorainy, IA, Ramzan, K, Imtiaz, F, Puiu, M, Kruer, MC, Bierhals, T, Wood, NW, Colak, D, Houlden, H, Kaya, N

المصدر: European Journal of Neurology (2019) (In press).

مصطلحات موضوعية: hypomyelination, leukodystrophy, NKX6‐2, spastic ataxia 8, SPAX8

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10085115/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10085115/

المؤلفون: Nicholas W. Wood, Saif Alshahrani, Dilek Colak, Michael C. Kruer, Kshitij Mankad, Zuhair Rahbeeni, Rozeena Huma, Khushnooda Ramzan, Rawan Almass, Stanislav Groppa, Moeenaldeen Al-Sayed, Indran Davagnanam, Fuad Almutairi, Maha S Al-Shammari, Maria Puiu, E Ghayoor Karimiani, N. Kaya, Stephanie Efthymiou, Nourelhoda A Haridy, M Beiraghi Toosi, Alya Qari, Muddathir H. Hamad, Mustafa A. Salih, Maysoon Alsagob, Somayeh Bakhtiari, Jessika Johannsen, Tatjana Bierhals, Reza Maroofian, Katja Kloth, Adela Chirita-Emandi, Henry Houlden, N T Malintan, Faiqa Imtiaz, Ibrahim A. Alorainy, Jana Vandrovcova, Laila AlQuait, Hamad Al-Zaidan, Viorica Chelban

المصدر: European Journal of Neurology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, leukodystrophy, animal structures, hypomyelination, Neonatal onset, Compound heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Medicine, Humans, Spinocerebellar Ataxias, 030212 general & internal medicine, Child, Exome sequencing, SPAX8, Homeodomain Proteins, Cerebellar ataxia, business.industry, Leukodystrophy, Original Articles, medicine.disease, Disease gene identification, Hypotonia, 3. Good health, Optic Atrophy, Phenotype, Neurology, Muscle Spasticity, Mutation, embryonic structures, NKX6‐2, Original Article, Neurology (clinical), medicine.symptom, business, spastic ataxia 8, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a074b70a1bf1d6a7a437cc5a7084b5ca
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdf