Works matching Adrenoleukodystrophy

Results: 842

儿童肾上腺脑白质营养不良1例并文献复习.

Published in:

China Tropical Medicine, 2018, v. 18, n. 11, p. 1165, doi. 10.13604/j.cnki.46-1064/r.2018.11.23

By:

厉广栩;
逯军;
赵清;
祁婧

Publication type:

Article

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Published in:

Journal of Neurochemistry, 2007, v. 101, n. 6, p. 1632, doi. 10.1111/j.1471-4159.2007.04457.x

By:

Takahashi, Norimasa;
Morita, Masashi;
Maeda, Takanori;
Harayama, Yuta;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Furuya, Hirokazu;
Sato, Ryuichiro;
Kashiwayama, Yoshinori;
Imanaka, Tsuneo

Publication type:

Article

Spastická paraparéza jako klinická manifestace závažné X-vázané adrenoleukodystrofie.

Published in:

Neurologie Pro Praxi, 2024, v. 25, n. 3, p. 231, doi. 10.36290/neu.2023.037

By:

Uhrová Mészárosová, Anna;
Laštůvková, Jana;
Cihlář, Filip;
Šantavá, Alena;
Mazanec, Radim

Publication type:

Article

Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature.

Published in:

2014

By:

Tan, Sien Hui;
Ng, Vivienne HY

Publication type:

Case Study

Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.

Published in:

Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680

By:

Kallabi, Fakhri;
Hadj Salem, Ikhlass;
Ben Salah, Ghada;
Ben Turkia, Hadhami;
Ben Chehida, amel;
Tebib, Neji;
Fakhfakh, Faiza;
Kamoun, Hassen

Publication type:

Article

Advances in the treatment of adrenoleukodystrophy.

Published in:

Journal of Shanghai Jiaotong University (Medical Science), 2025, v. 45, n. 1, p. 95, doi. 10.3969/j.issn.1674-8115.2025.01.011

By:

LIU Xiaoli;
CAO Li

Publication type:

Article

成人脑型肾上腺脑白质营养不良的临床及遗传学特征.

Published in:

Journal of Shanghai Jiaotong University (Medical Science), 2023, v. 43, n. 5, p. 592, doi. 10.3969/j.issn.1674-8115.2023.05.009

By:

刘桃桃;
刘晓黎;
邬静莹;
倪瑞隆;
张梦圆;
季杜欣;
张梅;
曹立

Publication type:

Article

Linking mutated primary structure of adrenoleukodystrophy protein with X-linked adrenoleukodystrophy.

Published in:

Computer Methods in Biomechanics & Biomedical Engineering, 2010, v. 13, n. 3, p. 403, doi. 10.1080/10255840903279974

By:

Shaomin Yan;
Guang Wu

Publication type:

Article

ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.

Published in:

Journal of Neurochemistry, 2015, v. 133, n. 3, p. 380, doi. 10.1111/jnc.12992

By:

Baarine, Mauhamad;
Beeson, Craig;
Singh, Avtar;
Singh, Inderjit

Publication type:

Article

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Published in:

Clinical Case Reports, 2016, v. 4, n. 2, p. 177, doi. 10.1002/ccr3.434

By:

Horn, Morten A.;
Mikaelsen, Karin B. M.;
Ferdinandusse, Sacha;
Jørum, Ellen;
Mellgren, Svein I.;
Retterstøl, Lars;
Wanders, Ronald J. A.;
Tallaksen, Chantal M. E.

Publication type:

Article

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.

Published in:

Endocrinology & Metabolism, 2020, v. 35, n. 1, p. 188, doi. 10.3803/EnM.2020.35.1.188

By:

Yun Kyung Cho;
Seo-Young Lee;
Sang-Wook Kim

Publication type:

Article

Identification of the Occipito-Pontine Tract Using Diffusion-Tensor Fiber Tracking in Adult-Onset Adrenoleukodystrophy with Topographic Disorientation.

Published in:

Case Reports in Neurology, 2011, v. 3, n. 2, p. 113, doi. 10.1159/000328962

By:

Uchida, Yuji;
Kimura, En;
Hirano, Teruyuki;
Nishi, Shinsuke;
Maeda, Yasushi;
Yamashita, Satoshi;
Ueno-Shuto, Keiko;
Tokutomi, Naofumi;
Kitajima, Mika;
Hirai, Toshinori;
Uchino, Makoto

Publication type:

Article

Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 262, doi. 10.1159/000112171

By:

Wanders, Ronald J.A.;
Tager, Joseph M.

Publication type:

Article

Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe.

Published in:

2010

By:

Potic, Ana;
Rovelli, Attilio M.;
Uziel, Graziella;
Kozic, Dusko;
Mladenovic, Jelena;
Milic-Rasic, Vedrana

Publication type:

Case Study

Early Signs of Visual Perception and Evoked Potentials in Radiologically Asymptomatic Boys With X-linked Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 927, doi. 10.1177/0883073808331354

By:

Furushima, Wakana;
Inagaki, Masumi;
Gunji, Atsuko;
Inoue, Yuki;
Kaga, Makiko;
Mizutani, Shuki

Publication type:

Article

Three Novel Variants in X-linked Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 857, doi. 10.1177/0883073808330764

By:

Shukla, Pallavi;
Gupta, Neerja;
Kabra, Madhulika;
Ghosh, Manju;
Sharma, Raju;
Gupta, Arun K.;
Gulati, Sheffali;
Kalra, Veena

Publication type:

Article

Adult-onset adrenoleukodystrophy of the olivopontocerebellar form and lacking cerebral involvement.

Published in:

Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 186, doi. 10.1111/ncn3.12067

By:

Koike, Yuka;
Umeda, Yoshitaka;
Umeda, Maiko;
Oyake, Mutsuo;
Fujita, Nobuya

Publication type:

Article

Management of X‑linked adrenoleukodystrophy in Morocco: actual situation.

Published in:

BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2902-4

By:

Benjelloun, F. Z. Madani;
Kriouile, Y.;
Cheillan, D.;
Daoud‑Tetouani, H.;
Chabraoui, L.

Publication type:

Article

Childhood adrenoleukodystrophy -- Classic and variant -- Review of clinical manifestations and magnetic resonance imaging.

Published in:

Journal of Pediatric Neurosciences, 2013, v. 8, n. 3, p. 192, doi. 10.4103/1817-1745.123661

By:

Rai, P. V. Santosh;
Suresh, B. V.;
Bhat, I. G.;
Sekhar, Mithun;
Chakraborti, Shrijeet

Publication type:

Article

Adrenoleukodystrophy manifesting as spinocerebellar degeneration.

Published in:

Neurology India, 2006, v. 54, n. 2, p. 195

By:

Mishra, Sanjay;
Modi, Manish;
Das, Chandi P.;
Prabhakar, Sudesh

Publication type:

Article

Gait Difficulties and Postural Instability in Adrenoleukodystrophy.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.684102

By:

Godbole, Neha P.;
Sadjadi, Reza;
DeBono, Madeline A.;
Grant, Natalie R.;
Kelly, Daniel C.;
James, Peter F.;
Stephen, Christopher D.;
Balkwill, M. David;
Lewis, Richard F.;
Eichler, Florian S.

Publication type:

Article

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 465, doi. 10.1590/1984-0462/;2019;37;4;00015

By:

Schumacher Furlan, Fernanda Luiza;
Andres Lemes, Macleise;
Fuverki Suguimatsu, Ligia Cecilia;
Furquim Pires, Carolina Teixeira;
Schmitz Ferreira Santos, Mara Lucia

Publication type:

Article

Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy.

Published in:

International Journal of Neuroscience, 2018, v. 128, n. 8, p. 783, doi. 10.1080/00207454.2017.1405953

By:

Zhang, Yifan;
Guo, Dongmei;
Tang, Yi

Publication type:

Article

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02673-x

By:

Zhu, Zhixing;
Genchev, Georgi Z.;
Wang, Yanmin;
Ji, Wei;
Zhang, Xiaofen;
Lu, Hui;
Sriswasdi, Sira;
Tian, Guoli

Publication type:

Article

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361

By:

Engelen, Marc;
Barbier, Mathieu;
Dijkstra, Inge M. E.;
Schür, Remmelt;
de Bie, Rob M. A.;
Verhamme, Camiel;
Dijkgraaf, Marcel G. W.;
Aubourg, Patrick A.;
Wanders, Ronald J. A.;
van Geel, Bjorn M.;
de Visser, Marianne;
Poll–The, Bwee T.;
Kemp, Stephan

Publication type:

Article

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2432, doi. 10.1093/brain/awt143

By:

Morató, Laia;
Galino, Jorge;
Ruiz, Montserrat;
Calingasan, Noel Ylagan;
Starkov, Anatoly A.;
Dumont, Magali;
Naudí, Alba;
Martínez, Juan José;
Aubourg, Patrick;
Portero-Otín, Manuel;
Pamplona, Reinald;
Galea, Elena;
Beal, M. Flint;
Ferrer, Isidre;
Fourcade, Stéphane;
Pujol, Aurora

Publication type:

Article

Oxidative stress regulates the ubiquitin–proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 891, doi. 10.1093/brain/aws370

By:

Launay, Nathalie;
Ruiz, Montserrat;
Fourcade, Stéphane;
Schlüter, Agatha;
Guilera, Cristina;
Ferrer, Isidre;
Knecht, Erwin;
Pujol, Aurora

Publication type:

Article

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3584

By:

López-Erauskin, Jone;
Galino, Jorge;
Bianchi, Patrizia;
Fourcade, Stéphane;
Andreu, Antoni L.;
Ferrer, Isidre;
Muñoz-Pinedo, Cristina;
Pujol, Aurora

Publication type:

Article

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2676, doi. 10.1093/brain/aws206

By:

Musolino, Patricia Leonor;
Rapalino, Otto;
Caruso, Paul;
Caviness, Verne Strudwick;
Eichler, Florian Sebald

Publication type:

Article

Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation.

Published in:

European Radiology Experimental, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41747-023-00373-6

By:

Moscatelli, Marco;
Benzoni, Chiara;
Doniselli, Fabio M.;
Verri, Mattia;
Pascuzzo, Riccardo;
Aquino, Domenico;
Mazzi, Federica;
Erbetta, Alessandra;
Salsano, Ettore

Publication type:

Article

Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy.

Published in:

Cells (2073-4409), 2022, v. 11, n. 5, p. 913, doi. 10.3390/cells11050913

By:

Wang, Hongge;
Davison, Matthew D.;
Kramer, Martin L.;
Qiu, Weiliang;
Gladysheva, Tatiana;
Chiang, Ruby M. S.;
Kayatekin, Can;
Nascene, David R.;
Taghizadeh, Leyla A.;
King, Carina J.;
Nolan, Erin E.;
Gupta, Ashish O.;
Orchard, Paul J.;
Lund, Troy C.

Publication type:

Article

Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss.

Published in:

Neuropathology & Applied Neurobiology, 2018, v. 44, n. 4, p. 363, doi. 10.1111/nan.12399

By:

Görtz, A. L.;
Peferoen, L. A. N.;
Gerritsen, W. H.;
Noort, J. M.;
Bugiani, M.;
Amor, S.

Publication type:

Article

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy.

Published in:

Anaesthesia, Pain & Intensive Care, 2019, v. 23, n. 1, p. 78

By:

Gupta, Jyoti;
Arora, Divesh

Publication type:

Article

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center.

Published in:

Indian Journal of Radiology & Imaging, 2021, v. 31, n. 2, p. 383, doi. 10.1055/s-0041-1734366

By:

Kumar, Somesh;
Sait, Haseena;
Polipalli, Sunil K.;
Pradhan, Gaurav S.;
Pruthi, Sumit;
Kapoor, Seema

Publication type:

Article

Anesthetic management of pediatric patients diagnosed with X‐linked adrenoleukodystrophy: A single‐center experience.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 2, p. 124, doi. 10.1111/pan.13786

By:

Kloesel, Benjamin;
Dua, Nupur;
Eskuri, Ryan;
Hall, Jason;
Cohen, Melissa;
Richtsfeld, Martina;
Belani, Kumar;
Veyckemans, Francis

Publication type:

Article

Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.

Published in:

Metabolic Brain Disease, 2015, v. 30, n. 6, p. 1439, doi. 10.1007/s11011-015-9717-6

By:

Jiang, Min-yan;
Cai, Yan-na;
Liang, Cui-li;
Peng, Min-zhi;
Sheng, Hui-ying;
Fan, Li-ping;
Lin, Rui-zhu;
Jiang, Hua;
Huang, Yonglan;
Liu, Li

Publication type:

Article

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 2, p. 99, doi. 10.1007/s10038-004-0226-4

By:

Guimar&atild;es, Carla P.;
Sá-Miranda, Clara;
Azevedo, Jorge E.

Publication type:

Article

Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease.

Published in:

JAMA: Journal of the American Medical Association, 2005, v. 294, n. 24, p. 3131, doi. 10.1001/jama.294.24.3131

By:

Moser, Hugo W.;
Raymond, Gerald V.;
Dubey, Prachi

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

A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy.

Published in:

Acta Neuropathologica, 1989, v. 77, n. 4, p. 437, doi. 10.1007/BF00687380

By:

Mito, T.;
Takada, K.;
Akaboshi, S.;
Takashima, S.;
Takeshita, K.;
Origuchi, Y.

Publication type:

Article

Adrenoleukodystrophy-cerebello-brainstem dominant case.

Published in:

Acta Neuropathologica, 1983, v. 60, n. 1/2, p. 149, doi. 10.1007/BF00685361

By:

Kuroda, S.;
Hirano, A.;
Yuasa, S.

Publication type:

Article

Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.

Published in:

2011

By:

Sener, R. Nuri;
Atalar, Mehmet H.

Publication type:

Case Study

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Published in:

Neuropsychiatric Disease & Treatment, 2025, v. 21, p. 677, doi. 10.2147/NDT.S507632

By:

Zhang, Yuanfeng;
Shi, Xiaorong;
Huang, Jianjun;
Wang, Chunmei;
Wu, Shengnan;
Tian, Guoli;
Jia, Jia;
Chen, Yucai

Publication type:

Article

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

Published in:

2015

By:

Karkar, Adnane;
Barakat, Abdelhamid;
Bakhchane, Amina;
Fettah, Houda;
Slassi, Ilham;
Dorboz, Imen;
Boespflug-Tanguy, Odile;
Nadifi, Sellama

Publication type:

journal article

X-linked adrenoleukodystrophy and primary adrenal insufficiency.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1309053

By:

Cappa, Marco;
Todisco, Tommaso;
Bizzarri, Carla

Publication type:

Article

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.

Published in:

Iranian Journal of Child Neurology, 2016, v. 10, n. 1, p. 61

By:

KARIMZADEH, Parvaneh;
JAFARI, Narjes;
NEJAD BIGLARI, Habibe;
JABBEHDARI, Sayena;
ALIZADEH, Mehdi;
ALIZADEH, Ghazal;
NEJAD BIGLARI, Hamid;
SANII, Sara

Publication type:

Article

Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.

Published in:

Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 12, p. 1702, doi. 10.1515/CCLM.2008.331

By:

Wang, Zhihong;
Ke, Longfeng;
Yan, Aizhen;
Zhu, Zhongyong;
Lan, Fenghua

Publication type:

Article

Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3344, doi. 10.1093/brain/awae169

By:

Golse, Marianne;
Weinhofer, Isabelle;
Blanco, Bernardo;
Barbier, Magali;
Yazbeck, Elise;
Huiban, Camille;
Chaumette, Boris;
Pichon, Bertrand;
Fatemi, Ali;
Pascual, Silvia;
Martinell, Marc;
Berger, Johannes;
Perlbarg, Vincent;
Galanaud, Damien;
Mochel, Fanny

Publication type:

Article

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.

Published in:

2019

By:

Huffnagel, Irene C;
Ballegoij, Wouter J C van;
Geel, Björn M van;
Vos, Johanna M B W;
Kemp, Stephan;
Engelen, Marc;
van Ballegoij, Wouter J C;
van Geel, Björn M

Publication type:

journal article

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy.

Published in:

2018

By:

Weinhofer, Isabelle;
Zierfuss, Bettina;
Hametner, Simon;
Wagner, Magdalena;
Popitsch, Niko;
Machacek, Christian;
Bartolini, Barbara;
Zlabinger, Gerhard;
Ohradanova-Repic, Anna;
Stockinger, Hannes;
Köhler, Wolfgang;
Höftberger, Romana;
Regelsberger, Günther;
Forss-Petter, Sonja;
Lassmann, Hans;
Berger, Johannes

Publication type:

journal article