132 related articles for article (PubMed ID: 31882333)
1. Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder.
Fujii H; Sato N; Takanashi JI; Kimura Y; Morimoto E; Shigemoto Y; Suzuki F; Sasaki M; Sugimoto H
Brain Dev; 2020 Mar; 42(3):302-306. PubMed ID: 31882333
[TBL] [Abstract][Full Text] [Related]
2. PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N
Clin Genet; 2018 Oct; 94(3-4):362-367. PubMed ID: 29797509
[TBL] [Abstract][Full Text] [Related]
3. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA; Mohammadi-Sarband M; Fardanesh F; Garshasbi M
BMC Med Genomics; 2022 Apr; 15(1):78. PubMed ID: 35379233
[TBL] [Abstract][Full Text] [Related]
4. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H; Dronzek J; Gonzaga-Jauregui C; Chim SM; Rajamani S; Nuwayhid S; Delgado D; Burke E; Karaca E; Franklin MC; Sarangapani P; Podgorski M; Tang Y; Dominguez MG; Withers M; Deckelbaum RA; Scheonherr CJ; Gahl WA; Malicdan MC; Zambrowicz B; Gale NW; Gibbs RA; Chung WK; Lupski JR; Economides AN
Hum Mol Genet; 2021 Jan; 29(21):3516-3531. PubMed ID: 33105479
[TBL] [Abstract][Full Text] [Related]
5. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL; Murdock DR; Burrage LC; Dai H; Lalani SR; Lewis RA; Lin Y; Astudillo MF; Rosenfeld JA; Tran AA; Gibson JB; ; Bacino CA; Lee BH; Chao HT
Am J Med Genet A; 2022 Jun; 188(6):1868-1874. PubMed ID: 35194938
[TBL] [Abstract][Full Text] [Related]
6. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN; Simard LR; Ly V; Del Bigio MR; Frosk P
Am J Med Genet A; 2019 Feb; 179(2):206-218. PubMed ID: 30556349
[TBL] [Abstract][Full Text] [Related]
7. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B; Schossig A; Haack TB; Kovács-Nagy R; Braunisch MC; Makowski C; Senderek J; Vill K; Müller-Felber W; Strom TM; Krabichler B; Freisinger P; Deshpande C; Polster T; Wolf NI; Desguerre I; Wörmann F; Rötig A; Ahting U; Kopajtich R; Prokisch H; Meitinger T; Feichtinger RG; Mayr JA; Jungbluth H; Hubmann M; Zschocke J; Distelmaier F; Koch J
Neuropediatrics; 2018 Oct; 49(5):330-338. PubMed ID: 29940663
[TBL] [Abstract][Full Text] [Related]
8. PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Alfadhel M; Nashabat M; Hundallah K; Al Hashem A; Alrumayyan A; Tabarki B
Child Neurol Open; 2018; 5():2329048X17752237. PubMed ID: 29372174
[TBL] [Abstract][Full Text] [Related]
9. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M; Yahia A; Elsayed LE; Hamed AA; Mohammed IN; Elseed MA; Hamad MHA; Babai AM; Siddig RA; Abd Allah ASI; Mohamed M; El-Amin M; Esteves T; Altmüller J; Toliat MR; Thiele H; Nürnberg P; Salih MA; Ahmed AE; Lerche H; Stevanin G
Ann Hum Genet; 2021 Sep; 85(5):186-195. PubMed ID: 34111303
[TBL] [Abstract][Full Text] [Related]
10. Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
Kettwig M; Elpeleg O; Wegener E; Dreha-Kulaczewski S; Henneke M; Gärtner J; Huppke P
BMC Neurol; 2016 May; 16():74. PubMed ID: 27206732
[TBL] [Abstract][Full Text] [Related]
11. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
Shukla A; Das Bhowmik A; Hebbar M; Rajagopal KV; Girisha KM; Gupta N; Dalal A
J Hum Genet; 2018 Jan; 63(1):19-25. PubMed ID: 29215095
[TBL] [Abstract][Full Text] [Related]
12. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
Costain G; Shugar A; Krishnan P; Mahmutoglu S; Laughlin S; Kannu P
Am J Med Genet A; 2017 Mar; 173(3):740-743. PubMed ID: 28211990
[TBL] [Abstract][Full Text] [Related]
13. Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.
Calloni SF; Cohen JS; Meoded A; Juusola J; Triulzi FM; Huisman TAGM; Poretti A; Fatemi A
Pediatr Neurol; 2017 May; 70():70-74. PubMed ID: 28286008
[TBL] [Abstract][Full Text] [Related]
14. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
[TBL] [Abstract][Full Text] [Related]
15. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G; Laura B; Spiaggia R; Basile A; Palmucci S; Foti PV; David E; Marinangeli F; Mascilini I; Corsello A; Comisi F; Vittori A; Salpietro V
Front Neurol; 2023; 14():1301147. PubMed ID: 38178891
[TBL] [Abstract][Full Text] [Related]
16. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M; Kalmár T; Nagy N; Berényi M; Telcs B; Maróti Z; Brandau O; Sztriha L
J Appl Genet; 2019 May; 60(2):151-162. PubMed ID: 30706430
[TBL] [Abstract][Full Text] [Related]
17. Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies.
Bindu PS; Gayathri N; Bharath RD; Mahadevan A; Sinha S; Taly AB
Neurol India; 2010; 58(3):460-5. PubMed ID: 20644281
[TBL] [Abstract][Full Text] [Related]
18. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M; Ahmed M; Ferrucci V; Salpietro V; Asadzadeh F; Carotenuto M; Maroofian R; Al-Amri A; Singh R; Scognamiglio I; Mojarrad M; Musella L; Duilio A; Di Somma A; Karaca E; Rajab A; Al-Khayat A; Mohan Mohapatra T; Eslahi A; Ashrafzadeh F; Rawlins LE; Prasad R; Gupta R; Kumari P; Srivastava M; Cozzolino F; Kumar Rai S; Monti M; Harlalka GV; Simpson MA; Rich P; Al-Salmi F; Patton MA; Chioza BA; Efthymiou S; Granata F; Di Rosa G; Wiethoff S; Borgione E; Scuderi C; Mankad K; Hanna MG; Pucci P; Houlden H; Lupski JR; Crosby AH; Baple EL
Brain; 2017 Apr; 140(4):940-952. PubMed ID: 28334956
[TBL] [Abstract][Full Text] [Related]
19. A case of Canavan disease with microcephaly.
Gowda VK; Bhat MD; Srinivasan VM; Prasad C; Benakappa A; Faruq M
Brain Dev; 2016 Sep; 38(8):759-62. PubMed ID: 26992473
[TBL] [Abstract][Full Text] [Related]
20. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Wang Y; Zheng X; Feng C; Fan X; Liu L; Guo P; Lei Z; Mei S
Mol Genet Genomic Med; 2022 Oct; 10(10):e2025. PubMed ID: 35985664
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
