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Quoted phrase not found in phrase index: "Early-onset parkinsonism-intellectual disability syndrome"
Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spec …
All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS …
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated with torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with …
TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, …
Planned early birth versus expectant management (waiting) for prelabour rupture of membranes at term (37 weeks or more).
Middleton P, Shepherd E, Flenady V, McBain RD, Crowther CA. Middleton P, et al. Cochrane Database Syst Rev. 2017 Jan 4;1(1):CD005302. doi: 10.1002/14651858.CD005302.pub3. Cochrane Database Syst Rev. 2017. PMID: 28050900 Free PMC article. Review.
Women in the planned early birth group had more positive experiences compared with women in the expectant management group.No clear differences between groups were observed for endometritis; postpartum pyrexia; postpartum antibiotic usage; caesarean for fetal distress; ope …
Women in the planned early birth group had more positive experiences compared with women in the expectant management group.No clear differen …
Mapping brain maturation.
Toga AW, Thompson PM, Sowell ER. Toga AW, et al. Trends Neurosci. 2006 Mar;29(3):148-59. doi: 10.1016/j.tins.2006.01.007. Epub 2006 Feb 10. Trends Neurosci. 2006. PMID: 16472876 Free PMC article. Review.
Here, we review recent progress on imaging studies of development. We focus on cortical and subcortical changes observed in healthy children, and contrast them with abnormal developmental changes in early-onset schizophrenia, fetal alcohol syndrome, at …
Here, we review recent progress on imaging studies of development. We focus on cortical and subcortical changes observed in healthy c …
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F. Inuzuka LM, et al. Epileptic Disord. 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. Epileptic Disord. 2020. PMID: 32597767
Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in KCNH1) and Zimmermann-Laband syndrome-like (ZLSL) (associated with KCNK4 variants). ... …
Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) …
Timing of Alzheimer's Disease by Intellectual Disability Level in Down Syndrome.
Hartley SL, Fleming V, Schworer EK, Peven J, Handen BL, Krinsky-McHale S, Hom C, Lee L, Tudorascu DL, Laymon C, Minhas D, Luo W, Cohen A, Zaman S, Ances BM, Mapstone M, Head E, Lai F, Rosas HD, Klunk W, Christian B; Alzheimer Biomarker Consortium-Down Syndrome. Hartley SL, et al. J Alzheimers Dis. 2023;95(1):213-225. doi: 10.3233/JAD-230200. J Alzheimers Dis. 2023. PMID: 37482997 Free PMC article.
BACKGROUND: Trisomy 21 causes Down syndrome (DS) and is a recognized cause of early-onset Alzheimer's disease (AD). ...Premorbid ID level was based on IQ or mental age scores prior to dementia concerns. PET was acquired using [11C] PiB for Abeta, and [ …
BACKGROUND: Trisomy 21 causes Down syndrome (DS) and is a recognized cause of early-onset Alzheimer's disease (AD). ... …
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
Symptom onset was in early childhood (median: 11.0 months, interquartile range: 6.0 months) with significant motor and speech delay, followed by progressive ascending spasticity, dystonia, neurogenic bladder dysfunction, gastrointestinal dysmotility, and epilepsy. The mean Spasti …
Symptom onset was in early childhood (median: 11.0 months, interquartile range: 6.0 months) with significant motor and speech delay, followe …
Obesity in the elderly.
Donini LM, Savina C, Coletti C, Paolini M, de Felice MR, del Balzo V, Cannella C, Scavone L. Donini LM, et al. Ann Ig. 2010 Nov-Dec;22(6):499-511. Ann Ig. 2010. PMID: 21417168
Obesity is a prevalent health disease among the elderly as it contributes to the early onset of chronic morbidity and functional impairment and is also related to premature mortality. The prevalence of sarcopenic-obesity increases too with age in each sex leading to …
Obesity is a prevalent health disease among the elderly as it contributes to the early onset of chronic morbidity and function …
Early and very early-onset schizophrenia compared with adult-onset schizophrenia: French FACE-SZ database.
Coulon N, Godin O, Bulzacka E, Dubertret C, Mallet J, Fond G, Brunel L, Andrianarisoa M, Anderson G, Chereau I, Denizot H, Rey R, Dorey JM, Lançon C, Faget C, Roux P, Passerieux C, Dubreucq J, Leignier S, Capdevielle D, André M, Aouizerate B, Misdrahi D, Berna F, Vidailhet P, Leboyer M, Schürhoff F. Coulon N, et al. Brain Behav. 2020 Feb;10(2):e01495. doi: 10.1002/brb3.1495. Epub 2020 Jan 7. Brain Behav. 2020. PMID: 31908151 Free PMC article.
OBJECTIVE: To compare the clinical symptomatology in patients with Early-Onset Schizophrenia (EOS, N = 176), especially the subgroup Very Early Onset Schizophrenia (VEOS) and Adult Onset Schizophrenia (AOS, N = 551). ...RESULTS: The importance of bette …
OBJECTIVE: To compare the clinical symptomatology in patients with Early-Onset Schizophrenia (EOS, N = 176), especially the su …
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 p …
In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures a …
177 results