138 related articles for article (PubMed ID: 38860480)
1. Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
In Lee J; Choi JY; Yang SS
Mol Genet Genomic Med; 2024 Jun; 12(6):e2466. PubMed ID: 38860480
[TBL] [Abstract][Full Text] [Related]
2. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL; Bellomo A; Ben-Pazi H; Everman DB; Frazer LM; Geraghty MT; Harper AD; Jones JR; Kamien B; Kernohan K; Koenig MK; Lines M; Palmer EE; Richardson R; Segel R; Tarnopolsky M; Vanstone JR; Gibbons M; Collins A; Fogel BL; ; Dudding-Byth T; Boycott KM
Orphanet J Rare Dis; 2017 Jun; 12(1):121. PubMed ID: 28659154
[TBL] [Abstract][Full Text] [Related]
3. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Sasaki M; Ohba C; Iai M; Hirabayashi S; Osaka H; Hiraide T; Saitsu H; Matsumoto N
J Neurol; 2015 May; 262(5):1278-84. PubMed ID: 25794864
[TBL] [Abstract][Full Text] [Related]
4. Retrocollis as the cardinal feature in a de novo ITRP1 variant.
Zachou A; Palaiologou D; Kanavakis E; Anagnostou E
Brain Dev; 2022 May; 44(5):347-352. PubMed ID: 35148930
[TBL] [Abstract][Full Text] [Related]
5. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP; Parolin Schnekenberg R; McGowan S; Sims D; McEntagart M; Elmslie F; Shears D; Stewart H; Tofaris GK; Dabir T; Morrison PJ; Johnson D; Hadjivassiliou M; Ellard S; Shaw-Smith C; Znaczko A; Dixit A; Suri M; Sarkar A; Harrison RE; Jones G; Houlden H; Ceravolo G; Jarvis J; Williams J; Shanks ME; Clouston P; Rankin J; Blumkin L; Lerman-Sagie T; Ponger P; Raskin S; Granath K; Uusimaa J; Conti H; McCann E; Joss S; Blakes AJM; Metcalfe K; Kingston H; Bertoli M; Kneen R; Lynch SA; Martínez Albaladejo I; Moore AP; Jones WD; ; Becker EBE; Németh AH
Mov Disord; 2024 Jan; 39(1):141-151. PubMed ID: 37964426
[TBL] [Abstract][Full Text] [Related]
6. [Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].
Zhi YN; Liu J; Zhen C; Li J; Wang F; Luo Y; Zhang P; Zhang M; Li Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):76-80. PubMed ID: 36585006
[TBL] [Abstract][Full Text] [Related]
7. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M; Helbig KL; Harmuth F; Deconinck T; Tanpaiboon P; Sun B; Guo W; Wang R; Palmaer E; Tang S; Schaefer GB; Gburek-Augustat J; Züchner S; Krägeloh-Mann I; Baets J; de Jonghe P; Bauer P; Chen SRW; Schöls L; Schüle R
Eur J Hum Genet; 2018 Nov; 26(11):1623-1634. PubMed ID: 29925855
[TBL] [Abstract][Full Text] [Related]
8. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Huang L; Chardon JW; Carter MT; Friend KL; Dudding TE; Schwartzentruber J; Zou R; Schofield PW; Douglas S; Bulman DE; Boycott KM
Orphanet J Rare Dis; 2012 Sep; 7():67. PubMed ID: 22986007
[TBL] [Abstract][Full Text] [Related]
9.
Kleyner R; Ung N; Arif M; Marchi E; Amble K; Gavin M; Madrid R; Lyon G
Cold Spring Harb Mol Case Stud; 2023 Dec; 9(4):. PubMed ID: 37821226
[TBL] [Abstract][Full Text] [Related]
10. Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
Wang L; Hao Y; Yu P; Cao Z; Zhang J; Zhang X; Chen Y; Zhang H; Gu W
Cerebellum; 2018 Jun; 17(3):294-299. PubMed ID: 29196976
[TBL] [Abstract][Full Text] [Related]
11. A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca
Casey JP; Hirouchi T; Hisatsune C; Lynch B; Murphy R; Dunne AM; Miyamoto A; Ennis S; van der Spek N; O'Hici B; Mikoshiba K; Lynch SA
J Neurol; 2017 Jul; 264(7):1444-1453. PubMed ID: 28620721
[TBL] [Abstract][Full Text] [Related]
12. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose
Romaniello R; Pasca L; Panzeri E; D'Abrusco F; Travaglini L; Serpieri V; Signorini S; Aiello C; Bertini E; Bassi MT; Valente EM; Zanni G; Borgatti R; Arrigoni F
Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743164
[TBL] [Abstract][Full Text] [Related]
13. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
van Dijk T; Barth P; Reneman L; Appelhof B; Baas F; Poll-The BT
Am J Med Genet A; 2017 Jan; 173(1):207-212. PubMed ID: 27862915
[TBL] [Abstract][Full Text] [Related]
14. Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Gazulla J; Bellosta-Diago E; Izquierdo-Alvarez S; Berciano J
Eur J Neurol; 2023 Aug; 30(8):2539-2543. PubMed ID: 37154409
[TBL] [Abstract][Full Text] [Related]
15. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Marelli C; van de Leemput J; Johnson JO; Tison F; Thauvin-Robinet C; Picard F; Tranchant C; Hernandez DG; Huttin B; Boulliat J; Sangla I; Marescaux C; Brique S; Dollfus H; Arepalli S; Benatru I; Ollagnon E; Forlani S; Hardy J; Stevanin G; Dürr A; Singleton A; Brice A
Arch Neurol; 2011 May; 68(5):637-43. PubMed ID: 21555639
[TBL] [Abstract][Full Text] [Related]
16. Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
Das J; Lilleker J; Shereef H; Ealing J
Neurol Neurochir Pol; 2017; 51(6):497-500. PubMed ID: 28826917
[TBL] [Abstract][Full Text] [Related]
17. Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Harris S; Putra M; Gilmore KL; Vora NL
Prenat Diagn; 2023 Oct; 43(11):1463-1466. PubMed ID: 37705153
[TBL] [Abstract][Full Text] [Related]
18. Spinocerebellar Ataxia type 29 in a family of Māori descent.
Ngo KJ; Poke G; Neas K; Fogel BL
Cerebellum Ataxias; 2019; 6():14. PubMed ID: 31632679
[TBL] [Abstract][Full Text] [Related]
19. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M; Williamson KA; Rainger JK; Wheeler A; Seawright A; De Baere E; Verdin H; Bergendahl LT; Quigley A; Rainger J; Dixit A; Sarkar A; López Laso E; Sanchez-Carpintero R; Barrio J; Bitoun P; Prescott T; Riise R; McKee S; Cook J; McKie L; Ceulemans B; Meire F; Temple IK; Prieur F; Williams J; Clouston P; Németh AH; Banka S; Bengani H; Handley M; Freyer E; Ross A; ; van Heyningen V; Marsh JA; Elmslie F; FitzPatrick DR
Am J Hum Genet; 2016 May; 98(5):981-992. PubMed ID: 27108798
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
