230 related articles for article (PubMed ID: 36768582)
1. Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.
Mroczek M; Iyadurai S
Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36768582
[TBL] [Abstract][Full Text] [Related]
2. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
Qashqari H; McNiven V; Gonorazky H; Mendoza-Londono R; Hassan A; Kulkarni T; Amburgey K; Dowling JJ
Neuromuscul Disord; 2022 Oct; 32(10):842-844. PubMed ID: 36210261
[TBL] [Abstract][Full Text] [Related]
3. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
[TBL] [Abstract][Full Text] [Related]
4. Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.
Mishra S; Girisha KM; Shukla A
Clin Dysmorphol; 2021 Jan; 30(1):1-5. PubMed ID: 33229923
[TBL] [Abstract][Full Text] [Related]
5. Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
Wyrebek R; DiBartolomeo M; Brooks S; Geller T; Crenshaw M; Iyadurai S
Neuromuscul Disord; 2022 Feb; 32(2):166-169. PubMed ID: 35094889
[TBL] [Abstract][Full Text] [Related]
6. A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W; Sun Y; Fan Y; Gao Y; Zhan Y; Wang L; Xiao B; Qiu W; Gu X; Sun K; Yu Y; Xu N
Eur J Hum Genet; 2023 Jan; 31(1):112-121. PubMed ID: 36376392
[TBL] [Abstract][Full Text] [Related]
7. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
Hunt D; Leventer RJ; Simons C; Taft R; Swoboda KJ; Gawne-Cain M; ; Magee AC; Turnpenny PD; Baralle D
J Med Genet; 2014 Dec; 51(12):806-13. PubMed ID: 25342064
[TBL] [Abstract][Full Text] [Related]
8. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V; Ciaccio C; Venturini M; Masson R; Ritelli M; Colombi M
Mol Genet Genomic Med; 2021 Jan; 9(1):e1562. PubMed ID: 33275834
[TBL] [Abstract][Full Text] [Related]
9. Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M; Zafeiriou D; Gurgel-Gianetti J; Vilela Morais de Azevedo B; Roos A; Bartels E; Kohlschmidt N; Phadke R; Feng L; Duff J; Töpf A; Straub V
Neuropediatrics; 2021 Oct; 52(5):390-393. PubMed ID: 33352606
[TBL] [Abstract][Full Text] [Related]
10. Patient with a novel purine-rich element binding protein A mutation.
Okamoto N; Nakao H; Niihori T; Aoki Y
Congenit Anom (Kyoto); 2017 Nov; 57(6):201-204. PubMed ID: 28164378
[TBL] [Abstract][Full Text] [Related]
11. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF; Janowski R; Alvi M; Self JE; van Essen TJ; Vreeburg M; Rouhl RPW; Stevens SJC; Stegmann APA; Schieving J; Pfundt R; van Dijk K; Smeets E; Stumpel CTRM; Bok LA; Cobben JM; Engelen M; Mansour S; Whiteford M; Chandler KE; Douzgou S; Cooper NS; Tan EC; Foo R; Lai AHM; Rankin J; Green A; Lönnqvist T; Isohanni P; Williams S; Ruhoy I; Carvalho KS; Dowling JJ; Lev DL; Sterbova K; Lassuthova P; Neupauerová J; Waugh JL; Keros S; Clayton-Smith J; Smithson SF; Brunner HG; van Hoeckel C; Anderson M; Clowes VE; Siu VM; Ddd Study T; Selber P; Leventer RJ; Nellaker C; Niessing D; Hunt D; Baralle D
J Med Genet; 2018 Feb; 55(2):104-113. PubMed ID: 29097605
[TBL] [Abstract][Full Text] [Related]
12. Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH; Reijnders MRF; Abubakare O; Tuttle E; Lape B; Minks KQ; Stodgell C; Bennetto L; Kwon J; Fong CT; Gripp KW; Marsh ED; Smith WE; Huq AM; Coury SA; Tan WH; Solis O; Mehta RI; Leventer RJ; Baralle D; Hunt D; Paciorkowski AR
Am J Med Genet A; 2018 Jan; 176(1):56-67. PubMed ID: 29150892
[TBL] [Abstract][Full Text] [Related]
13. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.
Ben Issa A; Ben Ayed I; Jallouli O; Souissi A; Bouchaalla W; Ben Said M; Mallouli S; Masmoudi S; Charfi Triki C; Hadj Kacem H; Kammoun F
Int J Dev Neurosci; 2023 Jun; 83(4):383-395. PubMed ID: 37204304
[TBL] [Abstract][Full Text] [Related]
14. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR; Zhang J; Schaaf CP; Brown CW; Magoulas P; Tsai AC; El-Gharbawy A; Wierenga KJ; Bartholomew D; Fong CT; Barbaro-Dieber T; Kukolich MK; Burrage LC; Austin E; Keller K; Pastore M; Fernandez F; Lotze T; Wilfong A; Purcarin G; Zhu W; Craigen WJ; McGuire M; Jain M; Cooney E; Azamian M; Bainbridge MN; Muzny DM; Boerwinkle E; Person RE; Niu Z; Eng CM; Lupski JR; Gibbs RA; Beaudet AL; Yang Y; Wang MC; Xia F
Am J Hum Genet; 2014 Nov; 95(5):579-83. PubMed ID: 25439098
[TBL] [Abstract][Full Text] [Related]
15. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM; Cossins J; Estephan EP; Munell F; Selby K; Hirano M; Maroofin R; Mehrjardi MYV; Chow G; Carr A; Manzur A; Robb S; Munot P; Wei Liu W; Banka S; Fraser H; De Goede C; Zanoteli E; Conti Reed U; Sage A; Gratacos M; Macaya A; Dusl M; Senderek J; Töpf A; Hofer M; Knight R; Ramdas S; Jayawant S; Lochmüller H; Palace J; Beeson D
Brain; 2019 Jun; 142(6):1547-1560. PubMed ID: 31081514
[TBL] [Abstract][Full Text] [Related]
16. Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.
Solazzi R; Fiorini E; Parrini E; Guerrini R; Bernardina BD; Nardocci N; Cantalupo G
Epileptic Disord; 2021 Oct; 23(5):745-748. PubMed ID: 34583915
[TBL] [Abstract][Full Text] [Related]
17. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.
Bonaglia MC; Zanotta N; Giorda R; D'Angelo G; Zucca C
Mol Cytogenet; 2015; 8():89. PubMed ID: 26582469
[TBL] [Abstract][Full Text] [Related]
18. PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications.
Iyadurai S; Geller T; Wyrebek R; Crenshaw M; Brooks S; DiBartolomeo M; Mroczek M
Neuromuscul Disord; 2023 Aug; 33(8):699. PubMed ID: 36631330
[No Abstract] [Full Text] [Related]
19. Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.
Kofoed AWS; Kristiansen SS; Miranda MJ; Rubboli G; Johannesen KM
Clin Genet; 2024 Jun; ():. PubMed ID: 38923490
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
