Found: 27
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
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- Publication type:
- Article
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 303, doi. 10.1093/brain/awz377
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- Publication type:
- Article
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
- Published in:
- 2019
- By:
- Publication type:
- journal article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
- Published in:
- 2017
- By:
- Publication type:
- journal article
La panencéphalite sclérosante subaiguë de la rougeole: Une maladie mortelle encore présente et toujours mystérieuse.
- Published in:
- Médecine Sciences, 2022, v. 38, n. 6/7, p. 553, doi. 10.1051/medsci/2022081
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- Publication type:
- Article
Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Variability of T1-weighted signal intensity of pericallosal lipomas in the fetus.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.
- Published in:
- 2019
- By:
- Publication type:
- Letter
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
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- Publication type:
- Article
Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00899
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- Publication type:
- Article
In mice and humans, brain microvascular contractility matures postnatally.
- Published in:
- Brain Structure & Function, 2023, v. 228, n. 2, p. 475, doi. 10.1007/s00429-022-02592-w
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- Publication type:
- Article
Editorial: What does human pathology bring to the understanding of the fundamental mechanisms of development?
- Published in:
- Frontiers in Neuroanatomy, 2022, v. 16, p. 01, doi. 10.3389/fnana.2022.1003607
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- Publication type:
- Article
MFN2, a new gene responsible for mitochondrial DNA depletion.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
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- Publication type:
- Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome.
- Published in:
- Annals of Neurology, 2006, v. 60, n. 4, p. 485
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- Publication type:
- Article
Dominant form of vanishing white matter–like leukoencephalopathy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 634
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- Publication type:
- Article
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Inborn error of amino acid synthesis: Human glutamine synthetase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 2/3, p. 352, doi. 10.1007/s10545-006-0256-5
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- Publication type:
- Article
Astrocyte Responses after Neonatal Ischemia: The Yin and the Yang.
- Published in:
- Neuroscientist, 2008, v. 14, n. 4, p. 339, doi. 10.1177/1073858408316003
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- Publication type:
- Article
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
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- Publication type:
- Article
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1004, doi. 10.1093/hmg/ddr531
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- Publication type:
- Article
Astrocytic Demise in the Developing Rat and Human Brain after Hypoxic-Ischemic Damage.
- Published in:
- Developmental Neuroscience, 2009, v. 31, n. 5, p. 459, doi. 10.1159/000232564
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- Publication type:
- Article
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 601, doi. 10.1002/pd.6113
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- Publication type:
- Article
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 4, p. 337, doi. 10.1002/pd.4543
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- Publication type:
- Article
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?).
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 3, p. 277, doi. 10.1002/pd.3824
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- Publication type:
- Article
Complex alternative splicing of the myelin oligodendrocyte glycoprotein gene is unique to human and non-human primates.
- Published in:
- Journal of Neurochemistry, 2006, v. 98, n. 6, p. 1707, doi. 10.1111/j.1471-4159.2006.04053.x
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- Publication type:
- Article