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Leukodystrophy
Known as:
Leukodystrophies
, leucodystrophies
, leucodystrophy
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A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in…
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National Institutes of Health
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Related topics
Related topics
26 relations
2,4-Dienoyl-CoA Reductase Deficiency
AICARDI-GOUTIERES SYNDROME 4
Alexander Disease
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
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Narrower (9)
Adrenoleukodystrophy
Canavan Disease
Diffuse Cerebral Sclerosis of Schilder
Globoid cell leukodystrophy
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Broader (1)
Cerebral degeneration
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection.
G. Zündorf
,
G. Reiser
Antioxidants & redox signaling
2011
Corpus ID: 30021400
The intracellular free calcium concentration subserves complex signaling roles in brain. Calcium cations (Ca(2+)) regulate…
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Review
2010
Review
2010
Metachromatic leukodystrophy--an update.
V. Gieselmann
,
I. Krägeloh-Mann
Neuropediatrics
2010
Corpus ID: 206308016
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A…
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Review
2007
Review
2007
N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology
J. Moffett
,
B. Ross
,
P. Arun
,
C. N. Madhavarao
,
A. Namboodiri
Progress in Neurobiology
2007
Corpus ID: 12300449
Highly Cited
2007
Highly Cited
2007
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
A. Richards
,
A. V. D. Maagdenberg
,
+34 authors
J. Atkinson
Nature Genetics
2007
Corpus ID: 3475346
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In…
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Highly Cited
2006
Highly Cited
2006
Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice.
A. Biffi
,
A. Capotondo
,
+10 authors
L. Naldini
The Journal of clinical investigation
2006
Corpus ID: 33232718
Metachromatic leukodystrophy (MLD) is a demyelinating lysosomal storage disorder for which new treatments are urgently needed. We…
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Highly Cited
2004
Highly Cited
2004
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells.
A. Biffi
,
Michele De Palma
,
+9 authors
L. Naldini
The Journal of clinical investigation
2004
Corpus ID: 7758039
Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases…
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Review
2003
Review
2003
Axonal damage: a key predictor of outcome in human CNS diseases.
I. Medana
,
M. Esiri
Brain : a journal of neurology
2003
Corpus ID: 18147611
Axonal damage has recently been recognized to be a key predictor of outcome in a number of diverse human CNS diseases, including…
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Highly Cited
2002
Highly Cited
2002
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
O. Koç
,
J. Day
,
M. Nieder
,
S. Gerson
,
H. Lazarus
,
W. Krivit
Bone Marrow Transplantation
2002
Corpus ID: 9441137
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal…
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Highly Cited
1999
Highly Cited
1999
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
M. Schuelke
,
J. Smeitink
,
+5 authors
L. Heuvel
Nature Genetics
1999
Corpus ID: 8603556
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Review
1995
Review
1995
Cortical maldevelopment, anti-psychotic drugs, and schizophrenia: a search for common ground
D. Weinberger
,
B. Lipska
Schizophrenia Research
1995
Corpus ID: 21915051
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