Works matching Leukodystrophy

Results: 1793

За диференциалната диагноза на левкодистрофиите с ранно начало с представяне на случаи

Published in:

Pediatria, 2019, v. 59, n. 2, p. 51

By:

Божинова, В.;
Тодоров, Т.;
Тодорова, А.;
Миланов, И.;
Иванов, И.

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

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

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity.

Published in:

Cells (2073-4409), 2024, v. 13, n. 22, p. 1873, doi. 10.3390/cells13221873

By:

Lin, Dar-Shong;
Ho, Che-Sheng

Publication type:

Article

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

儿童脑白质营养不良的临床遗传学研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 6, p. 711, doi. 10.7499/j.issn.1008-8830.2202020

By:

黄喆兰;
综述;
周文浩;
审校

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

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

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

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

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

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

Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.

Published in:

Acta Neuropathologica, 2006, v. 111, n. 1, p. 39, doi. 10.1007/s00401-005-1113-6

By:

Itoh, Kyoko;
Shiga, Kensuke;
Shimizu, Kentaro;
Muranishi, Manabu;
Nakagawa, Masanori;
Fushiki, Shinji

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

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

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

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

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

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

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

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review.

Published in:

Brain & Behavior, 2019, v. 9, n. 7, p. N.PAG, doi. 10.1002/brb3.1313

By:

Wang, Jian‐Yong;
Chen, Song‐Fang;
Zhang, Hong‐Qiu;
Wang, Meng‐Yan;
Zhu, Jian‐Hong;
Zhang, Xiong

Publication type:

Article

Exploring the globoid cell leukodystrophy protein network and therapeutic interventions.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-66437-8

By:

Khanal, Pukar;
Patil, Vishal S.;
Bhattacharya, Kunal;
Shrivastava, Amit Kumar;
Bhandare, Vishwambhar V.

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

Death Causes Among Iranian Children With Leukodystrophies.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 4, p. 233, doi. 10.1177/08830738241293171

By:

Shiva, Mahsa;
Hosseinpour, Sareh;
Ashrafi, Mahmoud Reza;
Heidari, Morteza;
Rezaei, Zahra;
Zebardast, Jayran;
Mohammadpour, Masoud;
Bonkowsky, Joshua L.;
Tavasoli, Ali Reza

Publication type:

Article

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 1, p. 26, doi. 10.1177/08830738241283171

By:

Lentini, Laura;
Toutounchi, Helia;
Chapleau, Alexandra;
Le, Adam;
Fournier, Simon;
Emari, Fatemeh;
Flamini, Robert;
Rossi, Andrea;
Gentile, Angela;
Bertini, Enrico;
Nicita, Francesco;
Pohl, Daniela;
Venkateswaran, Sunita;
Keller, Stephanie;
Rossignol, Elsa;
Renaud, Deborah;
Assis Pereira, Danilo De;
Chen, Xiaoru;
Vanderver, Adeline;
Bernard, Geneviève

Publication type:

Article

Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 8/9, p. 498, doi. 10.1177/08830738231188159

By:

Gavazzi, Francesco;
Patel, Virali;
Charsar, Brittany;
Glanzman, Allan;
Erler, Jacqueline;
Sevagamoorthy, Anjana;
McKenzie, Emma;
Kornafel, Tracy;
Ballance, Elizabeth;
Pierce, Samuel R.;
Teng, Michelle;
Formanowski, Brielle;
Woidill, Sarah;
Shults, Justine;
Wassmer, Evangeline;
Tonduti, Davide;
Magrinelli, Francesca;
Bernard, Geneviève;
Van Der Knaap, Marjo;
Wolf, Nicole

Publication type:

Article

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 2, p. 148, doi. 10.1177/0883073820960308

By:

Mingbunjerdsuk, Dararat;
Wong, Melissa;
Bozarth, Xiuhua;
Sun, Angela

Publication type:

Article

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 1, p. 65, doi. 10.1177/0883073820946154

By:

Keller, Stephanie R.;
Mallack, Eric J.;
Rubin, Jennifer P.;
Accardo, Jennifer A.;
Brault, Jennifer A.;
Corre, Camille S.;
Elizondo, Camila;
Garafola, Jennifer;
Jackson-Garcia, April C.;
Rhee, Jullie;
Seeger, Elisa;
Shullanberger, Kaprice C.;
Tourjee, Amanda;
Trovato, Melissa K.;
Waldman, Amy T.;
Wallace, Jenna L.;
Wallace, Michael R.;
Werner, Klaus;
White, Angela;
Ess, Kevin C.

Publication type:

Article

Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.

Published in:

Journal of Child Neurology, 2020, v. 35, n. 7, p. 433, doi. 10.1177/0883073820904294

By:

Parayil Sankaran, Bindu;
Nagappa, Madhu;
Chiplunkar, Shwetha;
Kothari, Sonam;
Govindaraj, Periyasamy;
Sinha, Sanjib;
Taly, Arun B.

Publication type:

Article

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.

Published in:

Journal of Child Neurology, 2019, v. 34, n. 6, p. 339, doi. 10.1177/0883073819828587

By:

Maegawa, Gustavo H.B.

Publication type:

Article

Scope and Burden of Non–Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients.

Published in:

Journal of Child Neurology, 2018, v. 33, n. 14, p. 882, doi. 10.1177/0883073818798090

By:

Bonkowsky, Joshua L.;
Wilkes, Jacob;
Shyr, David C.

Publication type:

Article

Current Therapeutic Approaches in Leukodystrophies: A Review.

Published in:

Journal of Child Neurology, 2018, v. 33, n. 13, p. 861, doi. 10.1177/0883073818792313

By:

Gordon-Lipkin, Eliza;
Fatemi, Ali

Publication type:

Article

Current Therapeutic Approaches in Leukodystrophies: A Review.

Published in:

Journal of Child Neurology, 2018, v. 33, n. 12, p. 861, doi. 10.1177/0883073818792313

By:

Gordon-Lipkin, Eliza;
Fatemi, Ali

Publication type:

Article

Metachromatic Leukodystrophy.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 13, p. 1457, doi. 10.1177/0883073816656401

By:

Eichler, Florian S.;
Cox, Timothy M.;
Crombez, Eric;
Dali, Christine í;
Kohlschütter, Alfried

Publication type:

Article

A 5-Year-Old Male Child With Late Infantile Metachromatic Leukodystrophy: A Case Report.

Published in:

2015

By:

Mahmood, Afreen;
Chacham, Swathi;
Reddy, Uppin Narayan;
Rao, Jillalla Narsing;
Rao, S. Pratap

Publication type:

Case Study

Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 2, p. 214, doi. 10.1177/0883073813503902

By:

Piana, Roberta La;
Tonduti, Davide;
Dressman, Heather Gordish;
Schmidt, Johanna L.;
Murnick, Jonathan;
Brais, Bernard;
Bernard, Genevieve;
Vanderver, Adeline

Publication type:

Article

Intestinal Involvement in Metachromatic Leukodystrophy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 1, p. 117, doi. 10.1177/0883073810378166

By:

Yavuz, Halûk;
Yüksekkaya, Hasan Ali

Publication type:

Article

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 5, p. 572, doi. 10.1177/0883073809341669

By:

Mahmood, Asif;
Berry, Jay;
Wenger, David A.;
Escolar, Maria;
Sobeih, Magdi;
Raymond, Gerald;
Eichler, Florian S.

Publication type:

Article

An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 1, p. 82, doi. 10.1177/0883073809334382

By:

Tinsa, Faten;
Caillaud, Catherine;
Vanier, Marie Thérèse;
Bousnina, Dorra;
Boussetta, Khadija;
Bousnina, Souad

Publication type:

Article

Stabilization of Juvenile Metachromatic Leukodystrophy After Bone Marrow Transplantation: A 13-Year Follow-up.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 9, p. 1139, doi. 10.1177/0883073807306256

By:

Görg, Maria;
Wilck, Wanja;
Granitzny, Barbara;
Suerken, Anne;
Lukacs, Zoltan;
Xiaoqi Ding;
Schulte-Markwort, Michael;
Kohlschütter, Alfried

Publication type:

Article

Peripheral Neuropathy in a Child With Cree Leukodystrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 6, p. 766, doi. 10.1177/0883073807304010

By:

Huntsman, R. J.;
Seshia, S.;
Lowry, N.;
Lemire, E. G.;
Harder, S. L.

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

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Published in:

2015

By:

Hsiang-Ru Liaw;
Hsiu-Fen Lee;
Ching-Shiang Chi;
Chi-Ren Tsai;
Liaw, Hsiang-Ru;
Lee, Hsiu-Fen;
Chi, Ching-Shiang;
Tsai, Chi-Ren

Publication type:

journal article

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Published in:

2015

By:

Battini, Roberta;
Bertelloni, Silvano;
Astrea, Guja;
Casarano, Manuela;
Travaglini, Lorena;
Baroncelli, Giampiero;
Pasquariello, Rosa;
Bertini, Enrico;
Cioni, Giovanni

Publication type:

Case Study

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 53, doi. 10.1186/s12881-015-0203-0

By:

Battini, Roberta;
Bertelloni, Silvano;
Astrea, Guja;
Casarano, Manuela;
Travaglini, Lorena;
Baroncelli, Giampiero;
Pasquariello, Rosa;
Bertini, Enrico;
Cioni, Giovanni

Publication type:

Article

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048613

By:

Yamamoto, Akiyo;
Fukumura, Shinobu;
Habata, Yumi;
Miyamoto, Sachiko;
Nakashima, Mitsuko;
Takashima, Shigeo;
Kawasaki, Yukihiko;
Shimozawa, Nobuyuki;
Saitsu, Hirotomo

Publication type:

Article

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048613

By:

Yamamoto, Akiyo;
Fukumura, Shinobu;
Habata, Yumi;
Miyamoto, Sachiko;
Nakashima, Mitsuko;
Takashima, Shigeo;
Kawasaki, Yukihiko;
Shimozawa, Nobuyuki;
Saitsu, Hirotomo

Publication type:

Article