150 related articles for article (PubMed ID: 32157189)
1. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM; Veenstra-Knol HE; Vansenne F; Gerkes EH; de Koning T; Vos YJ; Tijssen MAJ; Sival D; Darin N; Vanhoutte EK; Oosterloo M; Pennings M; van de Warrenburg BP; Kamsteeg EJ
Eur J Hum Genet; 2020 Jun; 28(6):763-769. PubMed ID: 32157189
[TBL] [Abstract][Full Text] [Related]
2. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J; Lopez E; Keren B; Heron D; Mignot C; Altuzarra C; Béri-Dexheimer M; Bonnet C; Magnin E; Burglen L; Minot D; Vigneron J; Morle S; Anheim M; Charles P; Brice A; Gallagher L; Amiel J; Haffen E; Mach C; Depienne C; Doummar D; Bonnet M; Duplomb L; Carmignac V; Callier P; Marle N; Mosca-Boidron AL; Roze V; Aral B; Razavi F; Jonveaux P; Faivre L; Thauvin-Robinet C
J Med Genet; 2012 Jun; 49(6):400-8. PubMed ID: 22693284
[TBL] [Abstract][Full Text] [Related]
3. Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.
Magnin E; Blagosklonov O; Sylvestre G; Minot D; Thevenon J; Faivre L; Boulahdour H; Thauvin-Robinet C; Rumbach L
Brain Dev; 2014 Sep; 36(8):711-5. PubMed ID: 24145135
[TBL] [Abstract][Full Text] [Related]
4. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ; Brown K; Byler MC; D'haenens E; Dheedene A; Henderson LB; Humberson JB; van Jaarsveld RH; Kanani F; Lebel RR; Millan F; Oegema R; Oostra A; Parker MJ; Rhodes L; Saenz M; Seaver LH; Si Y; Vanlander A; Vergult S; Callewaert B
Clin Genet; 2021 Feb; 99(2):259-268. PubMed ID: 33131045
[TBL] [Abstract][Full Text] [Related]
5. Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Dzinovic I; Serranová T; Prouteau C; Colin E; Ziegler A; Winkelmann J; Jech R; Zech M
Neurogenetics; 2021 May; 22(2):137-141. PubMed ID: 33677721
[TBL] [Abstract][Full Text] [Related]
6. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
Shinawi M; Coorg R; Shimony JS; Grange DK; Al-Kateb H
Clin Genet; 2015 May; 87(5):478-82. PubMed ID: 24738973
[TBL] [Abstract][Full Text] [Related]
7. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
8. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Shetty A; Gan-Or Z; Ashtiani S; Ruskey JA; van de Warrenburg B; Wassenberg T; Kamsteeg EJ; Rouleau GA; Suchowersky O
Eur J Med Genet; 2019 Dec; 62(12):103605. PubMed ID: 30572172
[TBL] [Abstract][Full Text] [Related]
9. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
10. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
Dubruc E; Putoux A; Labalme A; Rougeot C; Sanlaville D; Edery P
Am J Med Genet A; 2014 Jun; 164A(6):1571-5. PubMed ID: 24668549
[TBL] [Abstract][Full Text] [Related]
11. Is MED13L-related intellectual disability a recognizable syndrome?
Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR
Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045
[TBL] [Abstract][Full Text] [Related]
12. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K; Tétreault M; Yang S; La Piana R; Dicaire MJ; Vanstone MR; Mathieu J; Bouchard JP; Rioux MF; Rouleau GA; ; Boycott KM; Majewski J; Brais B
Eur J Hum Genet; 2016 Jul; 24(7):1016-21. PubMed ID: 26626314
[TBL] [Abstract][Full Text] [Related]
13. CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H; Au PYB; Berland S; Cogne B; Demurger F; Fluss J; Isidor B; Frank LM; Varvagiannis K; Koolen DA; McDonald M; Montgomery S; Moortgat S; Deprez M; Karadurmus D; Paulsen J; Reis A; Rieger M; Vasileiou G; Willing M; Shinawi M
Clin Genet; 2024 Mar; 105(3):294-301. PubMed ID: 38044714
[TBL] [Abstract][Full Text] [Related]
14. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
Hosseini Bereshneh A; Hosseipour S; Rasoulinezhad MS; Pak N; Garshasbi M; Tavasoli AR
Eur J Med Genet; 2020 May; 63(5):103868. PubMed ID: 32004679
[TBL] [Abstract][Full Text] [Related]
15. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H; Ushiyama M; Baba T; Tani K; Shiina M; Ogata K; Miyatake S; Fukuda-Yuzawa Y; Tsuji S; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Ikeda S; Tanaka F; Matsumoto N; Yoshida K
Sci Rep; 2014 Nov; 4():7132. PubMed ID: 25417924
[TBL] [Abstract][Full Text] [Related]
16. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
[TBL] [Abstract][Full Text] [Related]
17. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL; Girisha KM; Hardigan AA; Kortüm F; Shukla A; Alawi M; Dalal A; Brady L; Tarnopolsky M; Bird LM; Ceulemans S; Bebin M; Bowling KM; Hiatt SM; Lose EJ; Primiano M; Chung WK; Juusola J; Akdemir ZC; Bainbridge M; Charng WL; Drummond-Borg M; Eldomery MK; El-Hattab AW; Saleh MAM; Bézieau S; Cogné B; Isidor B; Küry S; Lupski JR; Myers RM; Cooper GM; Kutsche K
Am J Hum Genet; 2017 Jan; 100(1):117-127. PubMed ID: 28017373
[TBL] [Abstract][Full Text] [Related]
18. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
[TBL] [Abstract][Full Text] [Related]
19. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A; Ricca I; Piluso G; Galatolo D; De Michele G; Zanobio M; Trovato R; De Michele G; Zeuli R; Pane C; Cocozza S; Saccà F; Santorelli FM; Nigro V; Filla A
J Neurol; 2023 Oct; 270(10):5057-5063. PubMed ID: 37418012
[TBL] [Abstract][Full Text] [Related]
20. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J
Neurogenetics; 2018 May; 19(2):93-103. PubMed ID: 29511999
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
