Works matching DE "LEUKODYSTROPHY"

Results: 496

NDUFS8 -Related Leigh Syndrome Mimicking a Leukodystrophy.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 6, p. 465, doi. 10.1177/08830738251328199

By:

Hogue, Bailyn;
Garcia, Mekka R.;
Steigerwald, Connolly G.;
Borja, Maria J.;
Abreu, Nicolas J.

Publication type:

Article

A rare case of late adult-onset leukodystrophy due to CSF1R mutation.

Published in:

2025

By:

Mekala, Anusha;
Kunkala, Lavanya;
Shanmugam, Sundar;
Ramesh, Rithvik;
Ranganathan, Lakshmi Narasimhan

Publication type:

Case Study

Episodic hemiparesis precipitated by trauma.

Published in:

2020

By:

Kasinathan, Ananthanarayanan;
Padmanabha, Hansashree;
Suthar, Renu;
Sankhyan, Naveen

Publication type:

Letter

A retrospective review of LMNB1-related autosomal dominant leukodystrophy.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00055-w

By:

Ortiz, Judit M. Perez;
Muthusamy, Karthik;
Tobin, W. Oliver;
Gavrilova, Ralitza;
Cousin, Margot A.;
Dhamija, Radhika

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

Multiple disconnection syndrome, interoceptive metacognition deficits and fatigue in multiple sclerosis.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae302

By:

Chalah, Moussa A;
Ayache, Samar S

Publication type:

Article

Understanding the mechanisms of fatigue in multiple sclerosis: linking interoception, metacognition and white matter dysconnectivity.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae292

By:

Danciut, Iulia;
Rae, Charlotte L;
Rashid, Waqar;
Scott, James;
Bozzali, Marco;
Iancu, Mihaela;
Garfinkel, Sarah N;
Bouyagoub, Samira;
Dowell, Nicholas G;
Langdon, Dawn;
Cercignani, Mara

Publication type:

Article

Watershed regions are more susceptible to tissue microstructural injury in multiple sclerosis.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae299

By:

Toubasi, Ahmad A;
Xu, Junzhong;
Eisma, Jarrod J;
AshShareef, Salma;
Gheen, Caroline;
Vinarsky, Taegan;
Adapa, Pragnya;
Shah, Shailee;
Eaton, James;
Dortch, Richard D;
Donahue, Manus J;
Bagnato, Francesca

Publication type:

Article

Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.

Published in:

Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac202

By:

Laukka, Jeremy J.;
Kain, Kevin M.;
Rathnam, Anirudha S.;
Sohi, Jasloveleen;
Khatib, Dalal;
Kamholz, John;
Stanley, Jeffrey A.

Publication type:

Article

Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: "A Rare Case Report".

Published in:

2023

By:

Gagan, Devesh;
Kumar, Sudesh;
Bhattacharya, Piyali;
Kaur, Simranjit

Publication type:

Case Study

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

A - 117 Neuropsychological Profile of CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Published in:

Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1289, doi. 10.1093/arclin/acad067.134

By:

Taylor, Sarah E;
Naini, Savana M;
Eskridge, Courtney;
Holker, Erin;
Logemann, Allison M;
Porter, James;
Whiteside, Douglas M;
Waldron, Eric J

Publication type:

Article

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.

Published in:

2015

By:

Robinson, John L.;
Suh, EunRan;
Wood, Elisabeth M.;
Lee, Edward B.;
Coslett, H. Branch;
Raible, Kevin;
Lee, Virginia M.-Y.;
Trojanowski, John Q.;
Van Deerlin, Vivianna M.

Publication type:

Case Study

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1478

By:

Guo, Liyuan;
Jin, Bo;
Zhang, Yidan;
Wang, Jing

Publication type:

Article

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.914

By:

Kraoua, Ichraf;
Karkar, Adnane;
Drissi, Cyrine;
Benrhouma, Hanene;
Klaa, Hedia;
Samaan, Simon;
Renaldo, Florence;
Elmaleh, Monique;
Ben Hamouda, Mohamed;
Abdelhak, Sonia;
Boespflug‐Tanguy, Odile;
Ben Youssef‐Turki, Ilfghem;
Dorboz, Imen

Publication type:

Article

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.

Published in:

Translational Neurodegeneration, 2019, v. 8, n. 1, p. 1, doi. 10.1186/s40035-019-0171-y

By:

Tian, Wo-Tu;
Zhan, Fei-Xia;
Liu, Qing;
Luan, Xing-Hua;
Zhang, Chao;
Shang, Liang;
Zhang, Ben-Yan;
Pan, Si-Jian;
Miao, Fei;
Hu, Jiong;
Zhong, Ping;
Liu, Shi-Hua;
Zhu, Ze-Yu;
Zhou, Hai-Yan;
Sun, Suya;
Liu, Xiao-Li;
Huang, Xiao-Jun;
Jiang, Jing-Wen;
Ma, Jian-Fang;
Wang, Ying

Publication type:

Article

Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.

Published in:

2016

By:

Fernández‐Vega, Ivan;
Pérez de Heredia‐Goñi, Katti;
Santos‐Juanes, Jorge;
Goñi Imizcoz, Miguel;
Zaldumbide, Laura;
Zarranz, Juan Jose;
Ferrer, Isidro

Publication type:

Case Study

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America.

Published in:

2023

By:

Wong-Valenzuela, Emilio Israel;
San Juan, Daniel;
Santos Zambrano, José;
Camacho Molina, Alejandra;
Morales-Morales, Miguel Angel;
Lopez-Landa, Alejandro

Publication type:

Case Study

Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.

Published in:

Annals of Rehabilitation Medicine, 2019, v. 43, n. 2, p. 234, doi. 10.5535/arm.2019.43.2.234

By:

Sung Eun Hyun;
Byung Se Choi;
Ja-Hyun Jang;
Inpyo Jeon;
Dae-Hyun Jang;
Ju Seok Ryu

Publication type:

Article

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39218-6

By:

Ma, Tao;
Wang, Lei;
Chai, Anping;
Liu, Chao;
Cui, Wenqiang;
Yuan, Shuguang;
Wing Ngor Au, Shannon;
Sun, Liang;
Zhang, Xiaokang;
Zhang, Zhenzhen;
Lu, Jianping;
Gao, Yuanzhu;
Wang, Peiyi;
Li, Zhifang;
Liang, Yujie;
Vogel, Horst;
Wang, Yu Tian;
Wang, Daping;
Yan, Kaige;
Zhang, Huawei

Publication type:

Article

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.

Published in:

Nucleus (1949-1034), 2016, v. 7, n. 6, p. 547, doi. 10.1080/19491034.2016.1260799

By:

Padiath, Quasar S.

Publication type:

Article

The contrasting roles of lamin B1 in cellular aging and human disease.

Published in:

Nucleus (1949-1034), 2013, v. 4, n. 4, p. 283, doi. 10.4161/nucl.25808

By:

Dreesen, Oliver;
Ong, Peh Fern;
Chojnowski, Alexandre;
Colman, Alan

Publication type:

Article

Rare variability in adrenoleukodystrophy: a case report.

Published in:

2018

By:

Chen, Yanming;
Polara, Farhana;
Pillai, Anjana

Publication type:

journal article

Screening for Krabbe disease: The first 2 years' experience.

Published in:

Acta Neurologica Scandinavica, 2019, v. 140, n. 5, p. 359, doi. 10.1111/ane.13153

By:

Pannuzzo, Giovanna;
Graziano, Adriana Carol Eleonora;
Avola, Rosanna;
Drago, Filippo;
Cardile, Venera

Publication type:

Article

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

AARS2‐related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

Published in:

Acta Neurologica Scandinavica, 2018, v. 138, n. 4, p. 278, doi. 10.1111/ane.12954

By:

Taglia, I.;
Di Donato, I.;
Bianchi, S.;
Cerase, A.;
Monti, L.;
Marconi, R.;
Orrico, A.;
Rufa, A.;
Federico, A.;
Dotti, M. T.

Publication type:

Article

Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Published in:

2020

By:

Hettiarachchi, D.;
Dissanayake, V. H. W.

Publication type:

Correction Notice

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Published in:

BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4773-3

By:

Hettiarachchi, D.;
Dissanayake, V. H. W.

Publication type:

Article

Developmental regression with early feeding difficulties and characteristic neuroimaging features of H‐ABC in an infant from a TUBB4A genetic variant.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 11, p. 1264, doi. 10.1111/jpc.16492

By:

Charles‐Britton, Billie;
Leong, Yen Lee;
Clark, Damian;
Lynch, Matthew;
Donoghue, Sarah E

Publication type:

Article

Optimal indicator for histogram analysis of fractional anisotropy for normal-appearing white matter in multiple sclerosis.

Published in:

Neurology Asia, 2021, v. 26, n. 4, p. 785, doi. 10.54029/2021pnk

By:

Kimihiro Ogisu;
Masaaki Niino;
Yusei Miyazaki;
Seiji Kikuchi

Publication type:

Article

Low back pain as a presenting symptom in GNE myopathy.

Published in:

Neurology Asia, 2020, v. 25, n. 3, p. 399

By:

Sang-Soo Lee

Publication type:

Article

Alexander Disease.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 7, p. 869, doi. 10.1177/0883073815624762

By:

Bonthius, Daniel J.;
Karacay, Bahri

Publication type:

Article

Hypomyelination With T2-hypointense Globi Pallidi in a Child With Fucosidosis.

Published in:

2014

By:

Jain, Puneet;
Sharma, Suvasini;
Kumar, Atin;
Aneja, Satinder

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

An Indian Boy With a Novel Leukodystrophy: 4H Syndrome.

Published in:

2014

By:

Jauhari, Prashant;
Sahu, Jitendra Kumar;
Singhi, Pratibha;
Dayal, Devi;
Khandelwal, N.

Publication type:

Case Study

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1509, doi. 10.1177/0883073812458711

By:

Unal, Ozlem;
Ozgen, Burce;
Orhan, Diclehan;
Tokatli, Aysegul;
Hismi, Burcu Ozturk;
Dursun, Ali;
Coskun, Turgay;
Kalkanoglu-Sivri, H. Serap

Publication type:

Article

Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1500, doi. 10.1177/0883073812458538

By:

Rupps, Rosemarie;
Hukin, Juliette;
Balicki, Martha;
Mercimek-Mahmutoglu, Saadet;
Rolfs, Arndt;
Dias, Cristina

Publication type:

Article

An Unusual Presentation of Juvenile Alexander Disease.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 4, p. 507, doi. 10.1177/0883073811419263

By:

Osorio, Maria Joana;
Risen, Sarah;
Alper, Gulay

Publication type:

Article

Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.

Published in:

2024

By:

De Miguel, Ricardo;
Hague, Devon Wallis;
Johnson, Jennifer L.;
Zilinger, Amber M.;
Kukekova, Anna;
Lezmi, Stephane

Publication type:

Case Study

Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.

Published in:

Journal of Veterinary Internal Medicine, 2023, v. 37, n. 5, p. 1710, doi. 10.1111/jvim.16822

By:

Hammack, Samantha;
Hague, Devon Wallis;
Vieson, Miranda D.;
Esdaile, Elizabeth;
Hughes, Shayne S.;
Bellone, Rebecca R.;
McCoy, Annette M.

Publication type:

Article

Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog.

Published in:

Journal of Veterinary Internal Medicine, 2023, v. 37, n. 2, p. 670, doi. 10.1111/jvim.16655

By:

Vandenberghe, Hélène;
Baiker, Kerstin;
Nye, George;
Escauriaza, Leticia;
Roberts, Emma;
Granger, Nicolas;
Reeve, Lizzie

Publication type:

Article

A hypomyelinating leukodystrophy in German Shepherd dogs.

Published in:

Journal of Veterinary Internal Medicine, 2021, v. 35, n. 3, p. 1455, doi. 10.1111/jvim.16085

By:

Quitt, Pia R.;
Brühschwein, Andreas;
Matiasek, Kaspar;
Wielaender, Franziska;
Karkamo, Veera;
Hytönen, Marjo K.;
Meyer‐Lindenberg, Andrea;
Dengler, Berett;
Leeb, Tosso;
Lohi, Hannes;
Fischer, Andrea

Publication type:

Article

MRI Features in a Rat Model of H-ABC Tubulinopathy.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00555

By:

Garduno-Robles, Angeles;
Alata, Milvia;
Piazza, Valeria;
Cortes, Carmen;
Eguibar, Jose R.;
Pantano, Sergio;
Hernandez, Victor H.

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

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Published in:

2016

By:

Merrill, Steven T.;
Nelson, Gary R.;
Longo, Nicola;
Bonkowsky, Joshua L.

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

MicroRNA profiles of MS gray matter lesions identify modulators of the synaptic protein synaptotagmin‐7.

Published in:

Brain Pathology, 2020, v. 30, n. 3, p. 524, doi. 10.1111/bpa.12800

By:

Fritsche, Lena;
Teuber‐Hanselmann, Sarah;
Soub, Daniel;
Harnisch, Kim;
Mairinger, Fabian;
Junker, Andreas

Publication type:

Article

Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1‐myristyl ether treatment.

Published in:

Brain Pathology, 2019, v. 29, n. 5, p. 622, doi. 10.1111/bpa.12710

By:

Malheiro, Ana R.;
Correia, Barbara;
Ferreira da Silva, Tiago;
Bessa‐Neto, Diogo;
Van Veldhoven, Paul P.;
Brites, Pedro

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