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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1991 1
1992 1
1993 1
1998 2
2000 2
2003 1
2004 1
2005 2
2007 1
2009 2
2010 1
2011 2
2013 3
2014 2
2015 1
2016 4
2017 4
2018 2
2019 2
2020 5
2021 2
2022 6
2023 6
2024 4

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50 results

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Page 1
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
Tubulinopathies can be diagnosed as early as 21-24 gestational weeks using imaging and neuropathology, with possible extreme microlissencephaly with an extremely thin cortex, lissencephaly with either thick or thin/intermediate cortex, and dysgyria combined with cer …
Tubulinopathies can be diagnosed as early as 21-24 gestational weeks using imaging and neuropathology, with possible extreme microlissenceph …
Hereditary spastic paraplegia.
Blackstone C. Blackstone C. Handb Clin Neurol. 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. Handb Clin Neurol. 2018. PMID: 29478605 Review.
Schizophrenia, corpus callosum, and interhemispheric communication: a review.
Coger RW, Serafetinides EA. Coger RW, et al. Psychiatry Res. 1990 Nov;34(2):163-84. doi: 10.1016/0165-1781(90)90017-y. Psychiatry Res. 1990. PMID: 1962861 Review.
The literature suggests that some schizophrenic patients may have a dysfunction in the transfer of information between the two cerebral hemispheres via the corpus callosum (CC). The presence of an abnormally thickened CC in some schizophrenic patients and an abnorma …
The literature suggests that some schizophrenic patients may have a dysfunction in the transfer of information between the two cerebral hemi …
Hereditary Myelopathies.
Hedera P. Hedera P. Continuum (Minneap Minn). 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. Continuum (Minneap Minn). 2018. PMID: 29613898 Review.
This article focuses on newly identified genetic causes and the most important identifying clinical features that can aid the diagnosis, including the presence of a characteristic age of onset and additional neurologic signs such as leukodystrophy, thin corpus ca
This article focuses on newly identified genetic causes and the most important identifying clinical features that can aid the diagnosis, inc …
The indusium griseum and the longitudinal striae of the corpus callosum.
Di Ieva A, Fathalla H, Cusimano MD, Tschabitscher M. Di Ieva A, et al. Cortex. 2015 Jan;62:34-40. doi: 10.1016/j.cortex.2014.06.016. Epub 2014 Jul 8. Cortex. 2015. PMID: 25091482 Review.
In the eighteenth century, Lancisi described the indusium griseum (IG) and the longitudinal striae (LS) of the corpus callosum. The IG is a thin neuronal lamina above the corpus callosum, covered on each side of the midline by the medial and lat …
In the eighteenth century, Lancisi described the indusium griseum (IG) and the longitudinal striae (LS) of the corpus callosum
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU. Doleckova K, et al. Neurol Res. 2022 May;44(5):379-389. doi: 10.1080/01616412.2021.1975224. Epub 2022 Mar 7. Neurol Res. 2022. PMID: 35254204 Review.
The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to patient. Thin corpus callosum was not observed in two patients. Two Czech SPG11 patients had unusual late onset of disease …
The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to pat …
Splenium of corpus callosum: patterns of interhemispheric interaction in children and adults.
Knyazeva MG. Knyazeva MG. Neural Plast. 2013;2013:639430. doi: 10.1155/2013/639430. Epub 2013 Mar 13. Neural Plast. 2013. PMID: 23577273 Free PMC article. Review.
The splenium of the corpus callosum connects the posterior cortices with fibers varying in size from thin late-myelinating axons in the anterior part, predominantly connecting parietal and temporal areas, to thick early-myelinating fibers in the posterior par …
The splenium of the corpus callosum connects the posterior cortices with fibers varying in size from thin late-myelinat …
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.
Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B. Pozner T, et al. Brain. 2020 Aug 1;143(8):2369-2379. doi: 10.1093/brain/awaa099. Brain. 2020. PMID: 32355960 Free PMC article. Review.
The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy. Yet, the mechanisms of SPG11-linked spectrum diseases are largely unknown. ...
The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R. Shangguan H, et al. Orphanet J Rare Dis. 2019 Nov 14;14(1):255. doi: 10.1186/s13023-019-1219-x. Orphanet J Rare Dis. 2019. PMID: 31727177 Free PMC article. Review.
In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and white matter myelination delay, corpus callosum hypoplasia and Dandy-Walker malformation. ...
In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and wh …
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
The clinical phenotype associated with the different TAF8 mutations is characterized by severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Cerebral imaging showed hypomyelination, a thin
The clinical phenotype associated with the different TAF8 mutations is characterized by severe psychomotor retardation with almost absent de …
50 results