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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly and movement abnormalities"
Page 1
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies have been described in individuals with moderate to severe intellectual disability (ID), short stature, postnatal microcephaly, and a movement disorder (in the case of variants withi …
TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies have been described in individuals with moderate to severe inte …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. ...The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor d …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and de …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own ri …
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and …
Differential effects by sex with Kmt5b loss.
Wickramasekara RN, Robertson B, Hulen J, Hallgren J, Stessman HAF. Wickramasekara RN, et al. Autism Res. 2021 Aug;14(8):1554-1571. doi: 10.1002/aur.2516. Epub 2021 Apr 19. Autism Res. 2021. PMID: 33871180 Free PMC article.
Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet, its role in the brain is not known …
Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorde …
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
RESULTS: The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. ...Our observations indicate that some typical fea …
RESULTS: The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, inte …
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T. Kuseyri Hübschmann O, et al. Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5. Nat Commun. 2021. PMID: 34545092 Free PMC article.
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes …
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement dis …
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, Ten Hoopen LW, Brooks AS; ENCORE Expertise Center for AS; Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Am J Med Genet A. 2020 Jan;182(1):53-63. doi: 10.1002/ajmg.a.61382. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729827 Free PMC article.
Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of …
Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive st …
GRM7-related disorder: five additional patients from three independent families and review of the literature.
Januel L, Chatron N, Rivier-Ringenbach C, Cabet S, Labalme A, Sahin Y, Darvish H, Kruer M, Bakhtiari S, Sanlaville D, de Sainte Agathe JM, Lesca G. Januel L, et al. Eur J Med Genet. 2024 Feb;67:104893. doi: 10.1016/j.ejmg.2023.104893. Epub 2023 Dec 8. Eur J Med Genet. 2024. PMID: 38070825 Free article. Review.
To date, only ten patients have been reported in the literature, generally with severe phenotypes including early-onset epilepsy, microcephaly, brain anomalies, and spasticity. We report here 5 patients from 3 independent families with biallelic variants in the GRM7 gene. …
To date, only ten patients have been reported in the literature, generally with severe phenotypes including early-onset epilepsy, microce …
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Sánchez-Albisua I, et al. Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. Orphanet J Rare Dis. 2014. PMID: 24886362 Free PMC article.
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in t …
INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ven …
A guide for the use of fNIRS in microcephaly associated to congenital Zika virus infection.
Sato JR, Junior CEB, de Araújo ELM, de Souza Rodrigues J, Andrade SM. Sato JR, et al. Sci Rep. 2021 Sep 29;11(1):19270. doi: 10.1038/s41598-021-97450-w. Sci Rep. 2021. PMID: 34588470 Free PMC article.
In order to provide a common framework for advancing longitudinal neuroimaging assessment, we propose a principled guideline for fNIRS acquisition and analyses in children with neurodevelopmental disorders. Based on our experience on collecting fNIRS data in childre …
In order to provide a common framework for advancing longitudinal neuroimaging assessment, we propose a principled guideline for fNIRS acqui …
35 results