197 related articles for article (PubMed ID: 30690203)
1. Expanded PCH1D phenotype linked to EXOSC9 mutation.
Bizzari S; Hamzeh AR; Mohamed M; Al-Ali MT; Bastaki F
Eur J Med Genet; 2020 Jan; 63(1):103622. PubMed ID: 30690203
[TBL] [Abstract][Full Text] [Related]
2. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M; Iwama K; Sekiguchi F; Mashimo H; Kumada S; Ishigaki K; Okamoto N; Behnam M; Ghadami M; Koshimizu E; Miyatake S; Mitsuhashi S; Mizuguchi T; Takata A; Saitsu H; Miyake N; Matsumoto N
J Hum Genet; 2021 Apr; 66(4):401-407. PubMed ID: 33040083
[TBL] [Abstract][Full Text] [Related]
3. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT; Donkervoort S; Müller JS; Knierim E; Bharucha-Goebel D; Faqeih EA; Bell SK; AlFaifi AY; Monies D; Millan F; Retterer K; Dyack S; MacKay S; Morales-Gonzalez S; Giunta M; Munro B; Hudson G; Scavina M; Baker L; Massini TC; Lek M; Hu Y; Ezzo D; AlKuraya FS; Kang PB; Griffin H; Foley AR; Schuelke M; Horvath R; Bönnemann CG
Am J Hum Genet; 2018 May; 102(5):858-873. PubMed ID: 29727687
[TBL] [Abstract][Full Text] [Related]
4. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R; Cassandrini D; Pinto F; Trovato R; Di Rocco M; Mirabelli-Badenier M; Pedemonte M; Panicucci C; Trucks H; Sander T; Zara F; Rossi A; Striano P; Minetti C; Santorelli FM
J Neurol; 2013 Jul; 260(7):1866-70. PubMed ID: 23564332
[TBL] [Abstract][Full Text] [Related]
5. Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I; Atkinson D; Litvinenko I; Angelova L; Andonova S; Mumdjiev H; Pacheva I; Panova M; Yordanova R; Belovejdov V; Petrova A; Bosheva M; Shmilev T; Savov A; Jordanova A
Eur J Paediatr Neurol; 2018 Jul; 22(4):674-681. PubMed ID: 29656927
[TBL] [Abstract][Full Text] [Related]
6. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR; Barth PG; Niermeijer JM; Berg JN; Darin N; Dixit A; Fluss J; Foulds N; Fowler D; Hortobágyi T; Jacques T; King MD; Makrythanasis P; Máté A; Nicoll JA; O'Rourke D; Price S; Williams AN; Wilson L; Suri M; Sztriha L; Dijns-de Wissel MB; van Meegen MT; van Ruissen F; Aronica E; Troost D; Majoie CB; Marquering HA; Poll-Thé BT; Baas F
Orphanet J Rare Dis; 2014 Feb; 9():23. PubMed ID: 24524299
[TBL] [Abstract][Full Text] [Related]
7. Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
Damseh NS; Obeidat AN; Ahammed KS; Al-Ashhab M; Awad MA; van Hoof A
Am J Med Genet A; 2023 Jul; 191(7):1923-1928. PubMed ID: 37024942
[TBL] [Abstract][Full Text] [Related]
8. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A; Misceo D; Htun S; Mathisen L; Frengen E; Foreman M; Hurtig JE; Enyenihi L; Sterrett MC; Leung SW; Schneidman-Duhovny D; Estrada-Veras J; Duncan JL; Haaxma CA; Kamsteeg EJ; Xia V; Beleford D; Si Y; Douglas G; Treidene HE; van Hoof A; Fasken MB; Corbett AH
Hum Mol Genet; 2020 Aug; 29(13):2218-2239. PubMed ID: 32504085
[TBL] [Abstract][Full Text] [Related]
9. Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
Dabaj I; Hassani A; Burglen L; Qebibo L; Guerrot AM; Marret S; Tebani A; Bekri S
J Clin Med; 2022 Jul; 11(15):. PubMed ID: 35893425
[TBL] [Abstract][Full Text] [Related]
10. Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
Schwabova J; Brozkova DS; Petrak B; Mojzisova M; Pavlickova K; Haberlova J; Mrazkova L; Hedvicakova P; Hornofova L; Kaluzova M; Fencl F; Krutova M; Zamecnik J; Seeman P
J Neurogenet; 2013 Dec; 27(4):163-9. PubMed ID: 23883322
[TBL] [Abstract][Full Text] [Related]
11. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S; Senderek J; Jen JC; Houge G; Seeman P; Puchmajerová A; Graul-Neumann L; Seidel U; Korinthenberg R; Kirschner J; Seeger J; Ryan MM; Muntoni F; Steinlin M; Sztriha L; Colomer J; Hübner C; Brockmann K; Van Maldergem L; Schiff M; Holzinger A; Barth P; Reardon W; Yourshaw M; Nelson SF; Eggermann T; Zerres K
Neurology; 2013 Jan; 80(5):438-46. PubMed ID: 23284067
[TBL] [Abstract][Full Text] [Related]
12. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V; Müller JS; Pyle A; Munkley J; Dor T; Quartararo J; Ferrero I; Karcagi V; Giunta M; Polvikoski T; Birchall D; Princzinger A; Cinnamon Y; Lützkendorf S; Piko H; Reza M; Florez L; Santibanez-Koref M; Griffin H; Schuelke M; Elpeleg O; Kalaydjieva L; Lochmüller H; Elliott DJ; Chinnery PF; Edvardson S; Horvath R
Nat Commun; 2014 Jul; 5():4287. PubMed ID: 24989451
[TBL] [Abstract][Full Text] [Related]
13. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Pinto MM; Monges S; Malfatti E; Lubieniecki F; Lornage X; Alias L; Labasse C; Madelaine A; Fardeau M; Laporte J; Tizzano EF; Romero NB
Muscle Nerve; 2019 Jan; 59(1):137-141. PubMed ID: 30025162
[TBL] [Abstract][Full Text] [Related]
14. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
Maraş-Genç H; Uyur-Yalçın E; Rosti RÖ; Gleeson JG; Kara B
Turk J Pediatr; 2015; 57(3):286-9. PubMed ID: 26701950
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J; Yourshaw M; Mamsa H; Rudnik-Schöneborn S; Menezes MP; Hong JE; Leong DW; Senderek J; Salman MS; Chitayat D; Seeman P; von Moers A; Graul-Neumann L; Kornberg AJ; Castro-Gago M; Sobrido MJ; Sanefuji M; Shieh PB; Salamon N; Kim RC; Vinters HV; Chen Z; Zerres K; Ryan MM; Nelson SF; Jen JC
Nat Genet; 2012 Apr; 44(6):704-8. PubMed ID: 22544365
[TBL] [Abstract][Full Text] [Related]
16. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH; Kaur P; Stephen J; Guleria VS; Kadavigere R; Girisha KM; Bielas S; Upadhyai P; Shukla A
Clin Genet; 2021 Apr; 99(4):594-600. PubMed ID: 33463720
[TBL] [Abstract][Full Text] [Related]
17. Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
Schottmann G; Picker-Minh S; Schwarz JM; Gill E; Rodenburg RJT; Stenzel W; Kaindl AM; Schuelke M
Mitochondrion; 2017 Nov; 37():46-54. PubMed ID: 28687512
[TBL] [Abstract][Full Text] [Related]
18. A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L; Jahanbakhsh S; Nelson ADL; Ray D; Scott DD; Hennefarth MR; Moutal A; Perez-Miller S; Ambrose AJ; Al-Shamari A; Coursodon P; Meechoovet B; Reiman R; Lyons E; Beilstein M; Chapman E; Morris QD; Van Keuren-Jensen K; Hughes TR; Khanna R; Koehler C; Jen J; Gokhale V; Khanna M
ACS Chem Biol; 2018 Oct; 13(10):3000-3010. PubMed ID: 30141626
[TBL] [Abstract][Full Text] [Related]
19. A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
Zaki MS; Abdel-Ghafar SF; Abdel-Hamid MS
J Hum Genet; 2024 Feb; 69(2):79-84. PubMed ID: 38017281
[TBL] [Abstract][Full Text] [Related]
20. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
Am J Hum Genet; 2017 Sep; 101(3):428-440. PubMed ID: 28823707
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]