Works matching Leukodystrophy

Results: 2077

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

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

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

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

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

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

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

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

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

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

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

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

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

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: 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

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

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

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 3, p. 351, doi. 10.1007/s00401-017-1739-1

By:

Knaap, Marjo;
Bugiani, Marianna

Publication type:

Article

Pathology of the neurovascular unit in leukodystrophies.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01206-6

By:

Zarekiani, Parand;
Breur, Marjolein;
Wolf, Nicole I.;
de Vries, Helga E.;
van der Knaap, Marjo S.;
Bugiani, Marianna

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

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Published in:

Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16

By:

Amin, Mutaz;
Elsayed, Liena;
Ahmed, Ammar Eltahir

Publication type:

Article

Metakromatik Lökodistrofili Pediyatrik Bir Hastada Anestezi Yönetimi.

Published in:

Journal of the Turkish Anaesthesiology & Intensive Care Society - JTAICS / Türk Anestezi ve Reanimasyon Dergisi, 2010, v. 38, n. 5, p. 383

By:

Cuvaş, Özgün;
Eruyar, Solmaz;
Ceyhan, Ayşegül

Publication type:

Article

Seizures as a presenting feature of late onset metachromatic leukodystrophy.

Published in:

Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 192, doi. 10.1034/j.1600-0404.2000.102003192.x

By:

Bostantjopoulou, S.;
Katsarou, Z.;
Michelakaki, H.;
Kazis, A.

Publication type:

Article

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

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

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

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

Electrophysiologic studies in patients with Leukodystrophy.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 8

By:

NAFISSI, Shahriar

Publication type:

Article

Leukodystrophies with Intracranial Calcifications.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16

By:

MAHVELATI SHAMSABADI, Farhad

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

Update on leukodystrophies and developing trials.

Published in:

Journal of Neurology, 2024, v. 271, n. 1, p. 593, doi. 10.1007/s00415-023-11996-5

By:

Ceravolo, Giorgia;
Zhelcheska, Kristina;
Squadrito, Violetta;
Pellerin, David;
Gitto, Eloisa;
Hartley, Louise;
Houlden, Henry

Publication type:

Article

Epilepsy in children with leukodystrophies.

Published in:

Journal of Neurology, 2020, v. 267, n. 9, p. 2612, doi. 10.1007/s00415-020-09889-y

By:

Zhang, Jie;
Ban, Tingting;
Zhou, Ling;
Ji, Haoran;
Yan, Huifang;
Shi, Zhen;
Cao, Binbin;
Jiang, Yuwu;
Wang, Jingmin;
Wu, Ye

Publication type:

Article

A novel autosomal dominant leukodystrophy with specific MRI pattern.

Published in:

Journal of Neurology, 2015, v. 262, n. 4, p. 988, doi. 10.1007/s00415-015-7660-4

By:

Corlobé, A.;
Taithe, F.;
Clavelou, P.;
Pierre, E.;
Carra-Dallière, C.;
Ayrignac, X.;
Mouzat, K.;
Lumbroso, S.;
Menjot de Champfleur, N.;
Koenig, M.;
Boespflug-Tanguy, O.;
Labauge, P.

Publication type:

Article

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.

Published in:

Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5

By:

Numata, Yurika;
Gotoh, Leo;
Iwaki, Akiko;
Kurosawa, Kenji;
Takanashi, Jun-ichi;
Deguchi, Kimiko;
Yamamoto, Toshiyuki;
Osaka, Hitoshi;
Inoue, Ken

Publication type:

Article

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.

Published in:

Journal of Neurology, 2013, v. 260, n. 8, p. 2124, doi. 10.1007/s00415-013-6958-3

By:

Potic, Ana;
Pavlovic, Aleksandra;
Uziel, Graziella;
Kozic, Dusko;
Ostojic, Jelena;
Rovelli, Attilio;
Sternic, Nadezda;
Bjelan, Mladen;
Sarto, Elisa;
Bella, Daniela;
Taroni, Franco

Publication type:

Article

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Published in:

Journal of Neurology, 2013, v. 260, n. 6, p. 1617, doi. 10.1007/s00415-013-6844-z

By:

Salsano, Ettore;
Farina, Laura;
Lamperti, Costanza;
Piscosquito, Giuseppe;
Salerno, Franco;
Morandi, Lucia;
Carrara, Franco;
Lamantea, Eleonora;
Zeviani, Massimo;
Uziel, Graziella;
Savoiardo, Mario;
Pareyson, Davide

Publication type:

Article

Evaluation of Pediatric Leukodystrophies using Magnetic Resonance Imaging: A Prospective Study from North India.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, n. 6, p. 962, doi. 10.4103/mjdrdypu.mjdrdypu_67_21

By:

Malgotra, Sugandhi;
Kumar, Ashna;
Mahajan, Manik

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

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.

Published in:

2015

By:

Potic, Ana;
Popovic, Vera;
Ostojic, Jelena;
Pekic, Sandra;
Kozic, Dusko;
Guerrero, Kether;
Schiffmann, Raphael;
Bernard, Geneviève

Publication type:

Case Study

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

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

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

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.

Published in:

Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01321

By:

Wang, Xingao;
Wang, Qun;
Tang, Hefei;
Chen, Bin;
Dong, Xiang;
Niu, Songtao;
Li, Shaowu;
Shi, Yuzhi;
Shan, Wei;
Zhang, Zaiqiang

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