نتائج البحث - "White Matter Abnormalities"

المصدر: de Koning , T J 2024 , White matter abnormalities in amino acid disorders and organic acidurias . in Handbook of Clinical Neurology . Handbook of Clinical Neurology , vol. 204 , Elsevier Bedrijfsinformatie b.v. , pp. 173-196 . https://doi.org/10.1016/B978-0-323-99209-1.00023-5

مصطلحات موضوعية: Amino acids disorders, Hypomyelination, Leukoencephalopathies, Organic acidurias, White matter abnormalities

الاتاحة: https://hdl.handle.net/11370/5dd7c6fe-3222-4068-b4c4-72a885f327c7
https://research.rug.nl/en/publications/5dd7c6fe-3222-4068-b4c4-72a885f327c7
https://doi.org/10.1016/B978-0-323-99209-1.00023-5
http://www.scopus.com/inward/record.url?scp=85204482693&partnerID=8YFLogxK

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13

Academic Journal

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

المؤلفون: Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka-Pronicka, Katarzyna, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago-Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al-Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt-Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
http://www.scopus.com/inward/record.url?scp=85122725382&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85122725382&partnerID=8YFLogxK

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14

Academic Journal

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H

المصدر: Human Mutation (2022) (In press).

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf; https://discovery.ucl.ac.uk/id/eprint/10142352/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf
https://discovery.ucl.ac.uk/id/eprint/10142352/

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15

Academic Journal

State of intra- and extracranial arteries, white matter and cerebral cortex in asymptomatic hypertensive patients

المؤلفون: A. B. Berdalin, A. Yu. Vishnyakova, I. L. Gubsky, D. A. Golovin, V. G. Lelyuk

المصدر: Кардиоваскулярная терапия и профилактика, Vol 20, Iss 7 (2021)

مصطلحات موضوعية: hypertension, regional cortical atrophy, cerebral white matter abnormalities, stroke prevention, small vessel disease, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://cardiovascular.elpub.ru/jour/article/view/2768; https://doaj.org/toc/1728-8800; https://doaj.org/toc/2619-0125

URL الوصول: https://doaj.org/article/085823288c854b879c6b92b0c2ebea46

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16

Academic Journal

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

المؤلفون: Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Charcot–Marie–Tooth, axonal neuropathy, pyramidal signs, white matter abnormalities, MORC2 gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.718808/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/40e0a2cf747a4aa68375f72fb1d55448

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17

Motor predictors of cortical brain development and full-IQ in children born extremely preterm with and without discrete white matter abnormalities

المؤلفون: de Gamarra-Oca, L. Fernandez, Nosko, D., Kvanta, H., Brostrom, L., Strindberg, M., Svoboda, J., Moreira, N. Canto, Ojeda, N., Zubiaurre-Elorza, L., Ortqvist, M., Padilla, N., Ådén, Ulrika

المصدر: Brain Structure and Function. 230(1)

مصطلحات موضوعية: Discrete white matter abnormalities, Extremely preterm birth, Cortical thickness, Motor function and full-IQ

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-211076

18

Academic Journal

Congenital Cytomegalovirus Infection With Isolated “Minor” Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome

المساهمون: Doneda, Chiara, Scelsa, Barbara, Introvini, Paola, Zavattoni, Maurizio, Orcesi, Simona, Lombardi, Giuseppina, Pugni, Lorenza, Fumagalli, Monica, Rustico, Mariangela, Vola, Elena, Arrigoni, Filippo, Fabbri, Elisa, Tortora, Mario, Izzo, Giana, Genovese, Maurilio, Parazzini, Cecilia, Tassis, Beatrice, Ronchi, Andrea, Pietrasanta, Carlo, Triulzi, Fabio, Righini, Andrea

مصطلحات موضوعية: Congenital cytomegalovirus prognosi, Minor finding, Neuroradiology, Polar temporal lesion, Prenatal MR imaging, White matter abnormalities

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38631078; volume:155; firstpage:104; lastpage:113; numberofpages:10; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/11571/1497935; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85190353713; https://www.sciencedirect.com/science/article/pii/S0887899424000766?pes=vor

الاتاحة: https://hdl.handle.net/11571/1497935
https://doi.org/10.1016/j.pediatrneurol.2024.03.001
https://www.sciencedirect.com/science/article/pii/S0887899424000766?pes=vor

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19

Academic Journal

Vascular depression – regarding a case report

المؤلفون: P. Felgueiras, A. Martins, A. Miguel, N. Almeida

المصدر: European Psychiatry, Vol 64, Pp S429-S430 (2021)

مصطلحات موضوعية: Vascular Depression, Geriatric depressive syndromes, Cardiovascular disease, Subcortical white matter abnormalities, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S0924933821011469/type/journal_article; https://doaj.org/toc/0924-9338; https://doaj.org/toc/1778-3585

URL الوصول: https://doaj.org/article/3da2fb3f1c614e71b500522dc0166eb2

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20

Academic Journal

Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

المؤلفون: Jiménez Marín, Antonio, Díez Palacio, Ibai, Labayru Isusquiza, Garazi, Sistiaga Berrondo, Andone, Caballero, Maria C., Andres-Benito, Pol, Sepulcre, Jorge, Ferrer, Isidro, López de Munain Arregui, Adolfo José, Cortés Díaz, Jesús María

مصطلحات موضوعية: Allen Human Brain Atlas, DM1, neuropsychological deficits, structural neuroimaging, synaptic vesicles, volume loss, white-matter abnormalities, cardiac involvement, CGT repeats, brain, expansion, impairment, pattern, dysregulation, cognition, proteins

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/MINECO/DPI2016-79874-R; Neuropathology and Applied Neurobiology 47(7) : 1092-1108 (2021); http://hdl.handle.net/10810/54618

الاتاحة: http://hdl.handle.net/10810/54618
https://doi.org/10.1111/nan.12725

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