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Year Number of Results
1982 1
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2001 2
2002 3
2004 2
2005 3
2006 5
2007 1
2008 2
2009 2
2010 2
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2013 6
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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
The authors used MEDLINE, EMBASE, and GOOGLE SCHOLAR to provide an extensive update about epidemiology, classifications, pathology, clinical findings, diagnostic tools, and treatments of leukodystrophies. Comprehensive evaluation of clinical findings, brain magnetic resona …
The authors used MEDLINE, EMBASE, and GOOGLE SCHOLAR to provide an extensive update about epidemiology, classifications, pathology, clinical …
Glial cells in schizophrenia: a unified hypothesis.
Dietz AG, Goldman SA, Nedergaard M. Dietz AG, et al. Lancet Psychiatry. 2020 Mar;7(3):272-281. doi: 10.1016/S2215-0366(19)30302-5. Epub 2019 Nov 6. Lancet Psychiatry. 2020. PMID: 31704113 Free PMC article. Review.
We propose that immune activation of microglial cells during development, superimposed upon genetic risk factors, could contribute to defective differentiation competence of glial progenitor cells. The resulting hypomyelination and disrupted white matter integrity might co …
We propose that immune activation of microglial cells during development, superimposed upon genetic risk factors, could contribute to defect …
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
van der Knaap MS, Bugiani M. van der Knaap MS, et al. Acta Neuropathol. 2017 Sep;134(3):351-382. doi: 10.1007/s00401-017-1739-1. Epub 2017 Jun 21. Acta Neuropathol. 2017. PMID: 28638987 Free PMC article. Review.
Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin (hypomyelinating and demyelinating leukodystrophies, leukodystrophies with myelin vacuolization); astrocytopathies; leuko-axonopathies; microgliopathies; and le …
Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin (hypomyelinating and …
Leukodystrophies.
Barañano KW. Barañano KW. Semin Neurol. 2016 Aug;36(4):362-6. doi: 10.1055/s-0036-1585455. Epub 2016 Sep 19. Semin Neurol. 2016. PMID: 27643905 Review.
These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations. ...
These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumul …
Proteolytic processing of Neuregulin-1.
Willem M. Willem M. Brain Res Bull. 2016 Sep;126(Pt 2):178-182. doi: 10.1016/j.brainresbull.2016.07.003. Epub 2016 Jul 5. Brain Res Bull. 2016. PMID: 27393467 Review.
Neuregulin-1 (NRG1), known also as heregulin, acetylcholine receptor inducing activity (ARIA), glial growth factor (GGF), or sensory and motor neuron derived factor (SMDF), is a key factor for many developmental processes and in adult brain. All known splice variants conta …
Neuregulin-1 (NRG1), known also as heregulin, acetylcholine receptor inducing activity (ARIA), glial growth factor (GGF), or sensory and mot …
RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G. Wan L, et al. Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5. Epilepsia Open. 2023. PMID: 37186453 Free PMC article. Review.
Among the 29 patients, intellectual disability, developmental delay, and hypomyelination were the common symptoms, while 13 of them exhibited DEE and malformations of cortical development. ...SIGNIFICANCE: Patients with RARS1 biallelic mutations frequently exhibit DEE, a s …
Among the 29 patients, intellectual disability, developmental delay, and hypomyelination were the common symptoms, while 13 of them e …
GRM7 gene mutations and consequences for neurodevelopment.
Freitas GA, Niswender CM. Freitas GA, et al. Pharmacol Biochem Behav. 2023 Apr;225:173546. doi: 10.1016/j.pbb.2023.173546. Epub 2023 Mar 30. Pharmacol Biochem Behav. 2023. PMID: 37003303 Free PMC article. Review.
Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hypomyelination, brain atrophy and defects in axon outgrowth. Here, we review the newest findings regarding the cellular and molecul …
Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hyp …
Amino acid synthesis deficiencies.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2017 Jul;40(4):609-620. doi: 10.1007/s10545-017-0063-1. Epub 2017 Jun 26. J Inherit Metab Dis. 2017. PMID: 28653176 Free PMC article. Review.
In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures and varying degrees of mental disability. The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthes …
In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures and varying deg …
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. ...Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electron …
Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse …
Hypomyelinating leukodystrophies - unravelling myelin biology.
Wolf NI, Ffrench-Constant C, van der Knaap MS. Wolf NI, et al. Nat Rev Neurol. 2021 Feb;17(2):88-103. doi: 10.1038/s41582-020-00432-1. Epub 2020 Dec 15. Nat Rev Neurol. 2021. PMID: 33324001 Review.
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. Most patients with severe hypomyelination present in infancy or early childhood and develop severe neurological deficits, but …
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin depo …
100 results