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Quoted phrase not found in phrase index: "Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome"
Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. ...It is characterized by mild to profound global developmental delay/intel …
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder …
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.
Sharma R, Aravindhan A, Puente C, Veerapandiyan A. Sharma R, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221139670. doi: 10.1177/23247096221139670. J Investig Med High Impact Case Rep. 2022. PMID: 36458808 Free PMC article.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. ...Our patient had such an atypical presentati …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by triad of progressive cerebell …
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Ebrahimi-Fakhari D, et al. Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. Brain. 2016. PMID: 26715604 Free PMC article. Review.
Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. ...Her …
Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, …
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Küchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Lüdecke HJ, Wieczorek D. Redler S, et al. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422131 Free PMC article.
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. ...All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition. The …
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. ... …
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. Mallaret M, et al. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24. Brain. 2014. PMID: 24369382 Free PMC article.
We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. ...Moreover, we observed that the sho …
We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to …
Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study.
Oda Y, Yoshida K, Furutani C, Wakita A, Hama Y, Miyauchi M, Okada Y. Oda Y, et al. Spec Care Dentist. 2021 May;41(3):411-416. doi: 10.1111/scd.12572. Epub 2021 Feb 5. Spec Care Dentist. 2021. PMID: 33544393
BACKGROUND: Joubert syndrome (JS) is a rare autosomal recessive inherited ciliopathy caused by gene mutation. Manifestations can include intermittent dyspnea, apnea, ataxia, and other nervous system abnormalities. CASE PRESENTATION: The patient was a 2 …
BACKGROUND: Joubert syndrome (JS) is a rare autosomal recessive inherited ciliopathy caused by gene mutation. Manifesta …