Results 91 to 100 of about 14,971 (151)

Transcriptomic analysis of identical twins with different onset ages of adrenoleukodystrophy

Frontiers in Neuroscience
IntroductionAdrenoleukodystrophy (ALD) is a rare X-linked neurogenetic disease caused by mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene. Currently, the molecular mechanisms underlying the onset and severity of ALD remain unclear.
Chuhua Fu, Qiuyu Su, Qiuyu Su, Yinglian Chen, Yinglian Chen, Yonghui Zhang, Yan Zhang, Ying Cao, Xinggang Wang, Zhiming Zhen, Chen Liu, Chen Liu, Zhao Yang, Changlin Yin, Liang Tan   +14 more
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Infantile Spasms, Hypsarrhythmia, and Adrenoleukodystrophy (ALD)

, 1988
An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from ...
J Gordon Millichap
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Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients

, 1999
Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC→GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]).
Graziella Uziel, G. Uziel, PIGNATTI, Pierfranco, SALVIATI, Alessandro, Monica Mottes, Pier Franco Pignatti, C. Perusi, GOMEZ, Maria Macarena, Chiara Perusi, Alessandro Salviati, Macarena Gomez-Lira, RIZZUTO, Nicolo', MOTTES, Monica, Nicolò Rizzuto   +13 more
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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2021
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
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X-linked Adrenoleukodystrophy

, 2013
International audienceX-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical
Trompier, Doriane, Savary, Stéphane
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Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe

, 2010
We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years ...
Attilio M. Rovelli, Graziella Uziel, Ana Potic, Jelena Mladenovic, Dusko Kozic, Vedrana Milic-Rasic   +5 more
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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. [PDF]

, 2017
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration.
Dansereau, C, Aubourg, P, Smith, NJC, Eichler, F, Orchard, PJ, Miller, WP, Amartino, H, Sankar, R, Thrasher, AJ, Lund, TC, O'Meara, T, Duncan, C, Musolino, PL, Shah, AJ, Paker, AM, Shamir, E, Davidson, D, Raymond, GV, Williams, DA, Sevin, C, De Oliveira, S, Gissen, P, Armant, M, Gaspar, HB, Bratkovic, D   +24 more
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Adrenoleukodystrophy in a Chinese boy

, 1992
We report the first Chinese boy with adrenoleukodystrophy (ALD) who presented with hyperpigmentation, behavioral change and demyelination shown in magnetic resonance imaging of the brain.
Wong, V
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Structure and location of the murine adrenoleukodystrophy gene

, 1996
X-linked adrenoleukodystrophy (ALD) is a degenerative neurological disease characterized by the accumulation of very long chain fatty acids in various tissues and demyelination of the central nervous system.
Fifield, Wendy J., Morris, Christine M., Dodd, Andrew, Rowland, Shelley A., Miller, Allison L., Love, Donald R., Kennedy, Martin A., Neville, Louise A.   +7 more
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Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy

BACKGROUND: Cerebral adrenoleukodystrophy is a severe form of X-linked adrenoleukodystrophy characterized by white-matter disease, loss of neurologic function, and early death.
Eichler, Florian, Kühl, Jörn-Sven, Musolino, Patricia L, Thrasher, Adrian J, Dietz, Andrew C, Orchard, Paul J, Platzbecker, Uwe, Downey, Gerald F, Loes, Daniel J, Sankar, Raman, Hussain, Shaun A, Amartino, Hernan, Sevin, Caroline, De Oliveira, Satiro, Thakar, Himal L, Folloni Fernandes, Juliana, Demopoulos, Laura, Lund, Troy C, McNeil, Elizabeth, Smith, Nicholas, Aubourg, Patrick, Williams, David A, Gupta, Ashish O, Duncan, Christine N, Gissen, Paul, Dalle, Jean-Hugues   +25 more
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