Works matching Leukodystrophy

Results: 2104

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy.

Published in:

Cells (2073-4409), 2020, v. 9, n. 5, p. 1124, doi. 10.3390/cells9051124

By:

Lin, Dar-Shong;
Ho, Che-Sheng;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Lee, Tsung-Han;
Huang, Zo-Darr;
Wang, Tuan-Jen;
Yang, Shun-Jie;
Chiang, Ming-Fu

Publication type:

Article

Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.

Published in:

Clinical Neuropsychologist, 2024, v. 38, n. 5, p. 1272, doi. 10.1080/13854046.2023.2279697

By:

Haneda, Aya;
Hoots, Jennifer K.;
Hagy, Hannah A.;
Lacy, Maureen

Publication type:

Article

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations.

Published in:

Brain Pathology, 2009, v. 19, n. 1, p. 39, doi. 10.1111/j.1750-3639.2008.00163.x

By:

Freeman, Stefanie H.;
Hyman, Bradley T.;
Sims, Katherine B.;
Hedley-Whyte, E. T.;
Vossough, Arastoo;
Frosch, Matthew P.;
Schmahmann, Jeremy D.

Publication type:

Article

Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy.

Published in:

2015

By:

Wanner, Matthew;
Karmazyn, Boaz;
Fan, Rong;
Wanner, Matthew R

Publication type:

journal article

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

Published in:

Frontiers in Cellular Neuroscience, 2021, p. N.PAG, doi. 10.3389/fncel.2020.631802

By:

Perrier, Stefanie;
Michell-Robinson, Mackenzie A.;
Bernard, Geneviève

Publication type:

Article

The Primary Microglial Leukodystrophies: A Review.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6341, doi. 10.3390/ijms23116341

By:

Ferrer, Isidro

Publication type:

Article

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1254140

By:

Macintosh, Julia;
Perrier, Stefanie;
Pinard, Maxime;
Tran, Luan T.;
Guerrero, Kether;
Prasad, Chitra;
Prasad, Asuri N.;
Pastinen, Tomi;
Thiffault, Isabelle;
Coulombe, Benoit;
Bernard, Geneviève

Publication type:

Article

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Published in:

Neuropsychiatric Disease & Treatment, 2021, v. 17, p. 1451, doi. 10.2147/NDT.S296424

By:

Zhang, Tongxia;
Yan, Chuanzhu;
Liu, Yiming;
Cao, Lili;
Ji, Kunqian;
Li, Duoling;
Chi, Lingyi;
Zhao, Yuying

Publication type:

Article

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale.

Published in:

Journal of Patient-Reported Outcomes, 2018, v. 2, n. 1, p. N.PAG, doi. 10.1186/s41687-018-0041-x

By:

Brown, T. Michelle;
Martin, Susan;
Fehnel, Sheri E.;
Deal, Linda S.

Publication type:

Article

Leucodistrofia metacromatică forma juvenilă: cazul unor surori gemene.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 67

By:

Nussbaum, Laura;
Wagentrist, Peter;
Corcheş, Axinia;
Ageu, Luminiţa;
Hogea, Lavinia;
Micu-Şerbu, Bianca;
Morariu, Daiana;
Dragoş, Doina;
Nussbaum, Liliana;
Todica, Andrei

Publication type:

Article

Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario.

Published in:

Neurology India, 2025, v. 73, n. 2, p. 325, doi. 10.4103/neurol-india.Neurol-India-D-24-00198

By:

Meena, Ankit Kumar;
Wander, Arvinder;
Mahesan, Aakash;
Kamila, Gautam;
Kumar, Atin;
Chakrabarty, Biswaroop;
Jauhari, Prashant;
Gulati, Sheffali

Publication type:

Article

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324

By:

Muthusamy, Karthik;
Sivadasan, Ajith;
Dixon, Luke;
Sudhakar, Sniya;
Thomas, Maya;
Danda, Sumita;
Wszolek, Zbigniew K.;
Wierenga, Klaas;
Dhamija, Radhika;
Gavrilova, Ralitza

Publication type:

Article

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 6, p. 481, doi. 10.1007/s00401-004-0847-x

By:

Marotti, Jonathan D.;
Tobias, Sharon;
Fratkin, Jonathan D.;
Powers, James M.;
Rhodes, C. Harker

Publication type:

Article

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

Published in:

European Journal of Neurology, 2014, v. 21, n. 7, p. 983, doi. 10.1111/ene.12423

By:

Müller vom Hagen, J.;
Karle, K. N.;
Schüle, R.;
Krägeloh ‐ Mann, I.;
Schöls, L.

Publication type:

Article

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3562, doi. 10.1093/brain/awae085

By:

Bergner, Caroline G;
Breur, Marjolein;
Soto-Bernardini, M Clara;
Schäfer, Lisa;
Lier, Julia;
Duc, Diana Le;
Bundalian, Linnaeus;
Schubert, Susanna;
Brenner, David;
Kreuz, Friedmar R;
Schulte, Björn;
Waisfisz, Quinten;
Bugiani, Marianna;
Köhler, Wolfgang;
Sticht, Heinrich;
Jamra, Rami Abou;
Knaap, Marjo S van der

Publication type:

Article

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249

By:

Michell-Robinson, Mackenzie A;
Watt, Kristin E N;
Grouza, Vladimir;
Macintosh, Julia;
Pinard, Maxime;
Tuznik, Marius;
Chen, Xiaoru;
Darbelli, Lama;
Wu, Chia-Lun;
Perrier, Stefanie;
Chitsaz, Daryan;
Uccelli, Nonthué A;
Liu, Hanwen;
Cox, Timothy C;
Müller, Christoph W;
Kennedy, Timothy E;
Coulombe, Benoit;
Rudko, David A;
Trainor, Paul A;
Bernard, Geneviève

Publication type:

Article

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.622355

By:

Furukawa, Soma;
Kunii, Misako;
Doi, Hiroshi;
Kondo, Naohide;
Ogura, Aya;
Hirabuki, Koichi;
Itoh, Takayuki;
Matsumoto, Naomichi;
Tanaka, Fumiaki;
Katsuno, Masahisa;
Ito, Yasuhiro

Publication type:

Article

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

Published in:

2024

By:

Siori, Dimitra;
Vlachakis, Dimitrios;
Makrythanasis, Periklis;
Traeger-Synodinos, Joanne;
Veltra, Danai;
Kampouraki, Afrodite;
Chrousos, George P.

Publication type:

Case Study

A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy.

Published in:

Romanian Journal of Neurology, 2022, v. 21, n. 2, p. 115, doi. 10.37897/RJN.2022.2.4

By:

Ahmed, Hakim Si;
Belarbi, Ouardia;
Daoudi, Smail;
Labauge, Pierre;
Carra-Dalliere, Clarisse;
Perrine, Schmitt;
Pauline, Sanchez;
Drunate, Séverine;
Cavé, Hélène

Publication type:

Article

Infantile Metachromatic Leukodystrophy: Case Report.

Published in:

2023

By:

Hamad, Salsabeel;
Abufara, Israa;
Zagharneh, Safaa;
Abureesh, Taimaa;
Jobran, Afnan W. M.

Publication type:

Case Study

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5114, doi. 10.3390/jcm13175114

By:

Bettinger, Charlotte Maria;
Dulz, Simon;
Atiskova, Yevgeniya;
Guerreiro, Helena;
Schön, Gerhard;
Guder, Philipp;
Maier, Sarah Lena;
Denecke, Jonas;
Bley, Annette E.

Publication type:

Article

AARS2-Related Leukodystrophy: a Case Report and Literature Review.

Published in:

Cerebellum, 2023, v. 22, n. 1, p. 59, doi. 10.1007/s12311-022-01369-5

By:

Zhang, Xiao;
Li, Jie;
Zhang, Yanyan;
Gao, Meina;
Peng, Tao;
Tian, Tian

Publication type:

Article

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.

Published in:

European Journal of Medical Research, 2024, p. 1, doi. 10.1186/s40001-024-01771-1

By:

Chang, Shun-Chiao;
Eichinger, Christian Stefan;
Field, Polly

Publication type:

Article

Anaesthetic Concerns in a Case of Metachromatic Leukodystrophy.

Published in:

Sri Lankan Journal of Anaesthesiology, 2022, v. 30, n. 1, p. 82, doi. 10.4038/slja.v30i1.8691

By:

Mathew, Shaji;
Duggappa, Arun Kumar Handigodu;
Biradar, Jyothi;
Vaideeshwaran, Eeshwar Murali;
Muhamed, Shiyad

Publication type:

Article

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Published in:

Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x

By:

Srinivasan, Jayasri;
Coleman, Lee;
Kornberg, Andrew J.

Publication type:

Article

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Published in:

2019

By:

Beerepoot, Shanice;
Nierkens, Stefan;
Boelens, Jaap Jan;
Lindemans, Caroline;
Bugiani, Marianna;
Wolf, Nicole I.

Publication type:

journal article

Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 228, doi. 10.2350/14-09-1551-CR.1

By:

MCFADDEN, KATHRYN;
RANGANATHAN, SARANGARAJAN

Publication type:

Article

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.

Published in:

Neurological Sciences, 2023, v. 44, n. 9, p. 3363, doi. 10.1007/s10072-023-06767-z

By:

Yang, Haojun;
Wu, Zhongling;
Li, Xiaolei;
Huang, Yuanxin;
Li, Jing;
He, Fang;
Feng, Li;
Xiao, Bo;
Tang, Weiting

Publication type:

Article

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Published in:

Biomedicines, 2022, v. 10, n. 9, p. 2276, doi. 10.3390/biomedicines10092276

By:

Musumeci, Antonino;
Calì, Francesco;
Scuderi, Carmela;
Vinci, Mirella;
Vitello, Girolamo Aurelio;
Musumeci, Sebastiano Antonino;
Chiavetta, Valeria;
Federico, Concetta;
Amore, Greta;
Saccone, Salvatore;
Di Rosa, Gabriella;
Nicotera, Antonio Gennaro

Publication type:

Article

The Relative incidence of Leukodystrophies in Tehran Province.

Published in:

Journal of Safety Promotion & Injury Prevention, 2019, v. 7, n. 3, p. 250

By:

Amanat, Manouchehr;
Tavasoli, Ali Reza

Publication type:

Article

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.

Published in:

Neuropathology, 2012, v. 32, n. 3, p. 285, doi. 10.1111/j.1440-1789.2011.01257.x

By:

Martinez-Saez, Elena;
Shah, Sachit;
Costa, Carme;
Fleminger, Simon;
Connor, Stephen;
Bodi, Istvan

Publication type:

Article

Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy.

Published in:

Cells (2073-4409), 2023, v. 12, n. 7, p. 993, doi. 10.3390/cells12070993

By:

Lin, Dar-Shong;
Huang, Yu-Wen;
Lee, Tsung-Han;
Chang, Lung;
Huang, Zon-Darr;
Wu, Tsu-Yen;
Wang, Tuan-Jen;
Ho, Che-Sheng

Publication type:

Article

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.

Published in:

Cells (2073-4409), 2022, v. 11, n. 8, p. 1285, doi. 10.3390/cells11081285

By:

Yan, Huifang;
Yang, Shuyan;
Hou, Yiming;
Ali, Saima;
Escobar, Adrian;
Gao, Kai;
Duan, Ruoyu;
Kubisiak, Thomas;
Wang, Junyu;
Zhang, Yu;
Xiao, Jiangxi;
Jiang, Yuwu;
Zhang, Ting;
Wu, Ye;
Burmeister, Margit;
Wang, Qiang;
Cuajungco, Math P.;
Wang, Jingmin

Publication type:

Article

Gene and Cellular Therapies for Leukodystrophies.

Published in:

Pharmaceutics, 2023, v. 15, n. 11, p. 2522, doi. 10.3390/pharmaceutics15112522

By:

Aerts-Kaya, Fatima;
van Til, Niek P.

Publication type:

Article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Published in:

2004

By:

Goizet, Cyril;
Coupry, Isabelle;
Rooryck, Caroline;
Taine, Laurence;
Dormoy, Virginie;
Lacombe, Didier;
Arveiler, Benoît

Publication type:

Report

Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.

Published in:

Psychiatry & Clinical Neurosciences, 1999, v. 53, n. 3, p. 425, doi. 10.1046/j.1440-1819.1999.00569.x

By:

Fukutani, Yuken;
Noriki, Yoko;
Sasaki, Kazuo;
Isaki, Kiminori;
Kuriyama, Masaru;
Kurosawa, Kenji;
Ida, Hiroyuki;
Fukutani, Y.

Publication type:

Article

LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature.

Published in:

Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01030

By:

Zhang, Yanyan;
Li, Jie;
Bai, Rong;
Wang, Jianping;
Peng, Tao;
Chen, Lijie;
Wang, Jingtao;
Liu, Yanru;
Tian, Tian;
Lu, Hong

Publication type:

Article

Leukodystrophies due to astroyctic dysfunction.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 369, doi. 10.1111/bpa.12607

By:

Bugiani, Marianna;
Breur, Marjolein

Publication type:

Article

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 408, doi. 10.1111/bpa.12606

By:

Bugiani, Marianna;
Vuong, Caroline;
Breur, Marjolein;
van der Knaap, Marjo S.

Publication type:

Article

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice.

Published in:

Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-022-01644-8

By:

Pergande, Melissa R.;
Kang, Christina;
George, Diann;
Sutter, Pearl A.;
Crocker, Stephen J.;
Cologna, Stephanie M.;
Givogri, Maria I.

Publication type:

Article

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice.

Published in:

Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-022-01644-8

By:

Pergande, Melissa R.;
Kang, Christina;
George, Diann;
Sutter, Pearl A.;
Crocker, Stephen J.;
Cologna, Stephanie M.;
Givogri, Maria I.

Publication type:

Article

3D MR fingerprinting-derived myelin water fraction characterizing brain development and leukodystrophy.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04788-y

By:

Kim, Hyun Gi;
Han, Dongyeob;
Kim, Jimin;
Choi, Jeong-Sun;
Cho, Kyung-Ok

Publication type:

Article

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

Published in:

2020

By:

Campopiano, Rosa;
Ferese, Rosangela;
Zampatti, Stefania;
Giardina, Emiliano;
Biagioni, Francesca;
Colonnese, Claudio;
Centonze, Diego;
Storto, Marianna;
Buttari, Fabio;
Fraviga, Edoardo;
Broccoli, Vania;
Fanelli, Mirco;
Fornai, Francesco;
Gambardella, Stefano

Publication type:

journal article

Missense mutations as a cause of metachromatic leukodystrophy.

Published in:

FEBS Journal, 2005, v. 272, n. 5, p. 1179, doi. 10.1111/j.1742-4658.2005.04553.x

By:

Poeppel, Peter;
Habetha, Matthias;
Marcão, Ana;
Büssow, Heinrich;
Berna, Linda;
Gieselmann, Volkmar

Publication type:

Article

An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies.

Published in:

Journal of Magnetic Resonance Imaging, 2025, v. 61, n. 4, p. 1531, doi. 10.1002/jmri.29558

By:

Sharma, Smily;
Sundaram, Soumya;
Kesavadas, Chandrasekharan;
Thomas, Bejoy

Publication type:

Article

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.

Published in:

Genes, 2020, v. 11, n. 12, p. 1437, doi. 10.3390/genes11121437

By:

Vargas, Adriana;
Rojas, Jorge;
Aivasovsky, Ivan;
Vergara, Sergio;
Castellanos, Marianna;
Prieto, Carolina;
Celis, Luis

Publication type:

Article

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy.

Published in:

2023

By:

Kocaaga, Ayca;
Yimenicioglu, Sevgi;
Bayav, Murat

Publication type:

Case Study

Glucose metabolism in the brain in LMNB1‐related autosomal dominant leukodystrophy.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 2, p. 135, doi. 10.1111/ane.13024

By:

Finnsson, Johannes;
Lubberink, Mark;
Savitcheva, Irina;
Fällmar, David;
Melberg, Atle;
Kumlien, Eva;
Raininko, Raili

Publication type:

Article