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1994 1
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2002 3
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12 results

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Page 1
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Acosta-Baena N, Tejada-Moreno JA, Arcos-Burgos M, Villegas-Lanau CA. Acosta-Baena N, et al. Neurogenetics. 2022 Oct;23(4):231-240. doi: 10.1007/s10048-022-00700-w. Epub 2022 Nov 4. Neurogenetics. 2022. PMID: 36331689 Free PMC article. Review.
This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development syndromes.We screened different databases (PubMed, Scopus, Google Scholar, LILACS) by systematically searching journals and checking refer …
This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development sy …
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM. Romani M, et al. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Lancet Neurol. 2013. PMID: 23870701 Free PMC article. Review.
Neurological signs are present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. ...The primary cilium is a subcellular organelle that has key roles in devel …
Neurological signs are present from the neonatal period and include hypotonia progressing to ataxia, global developmental d …
X-linked disorders with cerebellar dysgenesis.
Zanni G, Bertini ES. Zanni G, et al. Orphanet J Rare Dis. 2011 May 15;6:24. doi: 10.1186/1750-1172-6-24. Orphanet J Rare Dis. 2011. PMID: 21569638 Free PMC article. Review.
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances …
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the …
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.
Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M. Krude H, et al. Exp Clin Endocrinol Diabetes. 2020 Jun;128(6-07):414-422. doi: 10.1055/a-1108-1456. Epub 2020 Apr 2. Exp Clin Endocrinol Diabetes. 2020. PMID: 32242326 Review.
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a …
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thy …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. ...The WNT1 gene has been tested as a candidate gene for Joubert syndrome …
Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay …
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
Al Teneiji A, Siriwardena K, George K, Mital S, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Pediatr Neurol. 2016 Sep;62:58-61. doi: 10.1016/j.pediatrneurol.2016.03.020. Epub 2016 Jun 4. Pediatr Neurol. 2016. PMID: 27426421 Review.
PATIENT DESCRIPTION AND RESULTS: We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy. ...In individuals with global developmental …
PATIENT DESCRIPTION AND RESULTS: We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with gl …
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
Klepper J, Voit T. Klepper J, et al. Eur J Pediatr. 2002 Jun;161(6):295-304. doi: 10.1007/s00431-002-0939-3. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029447 Review.
Clinical features are variable and include seizures, developmental delay, acquired microcephaly, hypotonia, and a complex motor disorder with elements of ataxia, dystonia, and spasticity. ...An effective treatment is available by means of a ketogenic diet as …
Clinical features are variable and include seizures, developmental delay, acquired microcephaly, hypotonia, and a complex moto …
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT, Newcomb TM, Swoboda KJ. Sweney MT, et al. Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Pediatr Neurol. 2015. PMID: 25447930 Free PMC article. Review.
Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays …
Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor a …
Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI. Pascual-Castroviejo I, et al. Neuropediatrics. 1994 Aug;25(4):183-90. doi: 10.1055/s-2008-1073020. Neuropediatrics. 1994. PMID: 7824090 Review.
Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development …
Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: …
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
Das J, Lilleker J, Shereef H, Ealing J. Das J, et al. Neurol Neurochir Pol. 2017 Nov-Dec;51(6):497-500. doi: 10.1016/j.pjnns.2017.06.012. Epub 2017 Jul 8. Neurol Neurochir Pol. 2017. PMID: 28826917 Review.
Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed mot …
Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs …
12 results