118 related articles for article (PubMed ID: 38576116)
1. De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Keller Sarmiento IJ; Bustos BI; Blackburn J; Hac NEF; Ruzhnikov M; Monroe M; Levy RJ; Kinsley L; Li M; Silani V; Lubbe SJ; Krainc D; Mencacci NE
Mov Disord; 2024 Apr; ():. PubMed ID: 38576116
[TBL] [Abstract][Full Text] [Related]
2. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S; Ma M; Mao X; Bacino CA; Jankovic J; Sutton VR; Bartley JA; Wang X; Rosenfeld JA; Beleza-Meireles A; Chauhan J; Pan X; Li M; Liu P; Prescott K; Amin S; Davies G; Wangler MF; Dai Y; Bellen HJ
Am J Hum Genet; 2022 Oct; 109(10):1932-1943. PubMed ID: 36206744
[TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V; Wiethoff S; Fabian-Jessing BK; Haridy NA; Khan A; Efthymiou S; Becker EBE; O'Connor E; Hersheson J; Newland K; Hojland AT; Gregersen PA; Lindquist SG; Petersen MB; Nielsen JE; Nielsen M; Wood NW; Giunti P; Houlden H
Mov Disord; 2018 Jul; 33(7):1119-1129. PubMed ID: 29603387
[TBL] [Abstract][Full Text] [Related]
4. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
5. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
6. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder.
Christen M; Gutierrez-Quintana R; James M; Faller KME; Lowrie M; Rusbridge C; Bossens K; Mellersh C; Pettitt L; Heinonen T; Lohi H; Jagannathan V; Leeb T
Mov Disord; 2023 Jun; 38(6):1094-1099. PubMed ID: 37023257
[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. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Rosenbohm A; Pott H; Thomsen M; Rafehi H; Kaya S; Szymczak S; Volk AE; Mueller K; Silveira I; Weishaupt JH; Tönnies H; Seibler P; Zschiedrich K; Schaake S; Westenberger A; Zühlke C; Depienne C; Trinh J; Ludolph AC; Klein C; Bahlo M; Lohmann K
Mov Disord; 2022 Dec; 37(12):2427-2439. PubMed ID: 36148898
[TBL] [Abstract][Full Text] [Related]
9. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
10. The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B; Gorman K; Marcé-Grau A; Ortigoza-Escobar JD; Macaya A; Danti FR; Barwick K; Papandreou A; Ng J; Meyer E; Mohammad SS; Smith M; Muntoni F; Munot P; Uusimaa J; Vieira P; Sheridan E; Guerrini R; Cobben J; Yilmaz S; De Grandis E; Dale RC; Pons R; Peall KJ; Leuzzi V; Kurian MA
Mov Disord; 2022 Nov; 37(11):2197-2209. PubMed ID: 36054588
[TBL] [Abstract][Full Text] [Related]
11. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel F; Rastetter A; Ceulemans B; Platzer K; Yang S; Shinde DN; Helbig KL; Lopergolo D; Mari F; Renieri A; Benetti E; Canitano R; Waisfisz Q; Plomp AS; Huisman SA; Wilson GN; Cathey SS; Louie RJ; Gaudio DD; Waggoner D; Kacker S; Nugent KM; Roeder ER; Bruel AL; Thevenon J; Ehmke N; Horn D; Holtgrewe M; Kaiser FJ; Kamphausen SB; Abou Jamra R; Weckhuysen S; Dalle C; Depienne C
Brain; 2020 Dec; 143(12):3564-3573. PubMed ID: 33242881
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D; Song X; Ma J; Li X; Guo Y; Li M; Luo H; Fang Z; Yang C; Xie L; Jiang L
Eur J Pediatr; 2023 Feb; 182(2):825-836. PubMed ID: 36484864
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Hadjinicolaou A; Ngo KJ; Conway DY; Provias JP; Baker SK; Brady LI; Bennett CL; La Spada AR; Fogel BL; Yoon G
Acta Neuropathol Commun; 2021 Dec; 9(1):194. PubMed ID: 34922620
[TBL] [Abstract][Full Text] [Related]
16. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Ortigoza-Escobar JD; Zamani M; Dorison N; Sadeghian S; Azizimalamiri R; Alvi JR; Sultan T; Galehdari H; Shariati G; Saberi A; Leeuwen L; Zifarelli G; Bauer P; d'Hardemare V; Doummar D; Roze E; Travaglini L; Nicita F; Ojea Ponce N; Zahraei SM; Alabdi L; Tamim A; Hashem MO; Ababneh F; Morrow MM; Curry C; Tam A; Ruedy J; Bhambhani V; Veith R; Strømme P; Efthymiou S; Alkuraya FS; Moreno-De-Luca A; Burglen L; Houlden H; Maroofian R
Mov Disord; 2024 Jun; ():. PubMed ID: 38899514
[TBL] [Abstract][Full Text] [Related]
17. Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.
Faber J; Giordano I; Jiang X; Kindler C; Spottke A; Acosta-Cabronero J; Nestor PJ; Machts J; Düzel E; Vielhaber S; Speck O; Dudesek A; Kamm C; Scheef L; Klockgether T
Mov Disord; 2020 May; 35(5):816-824. PubMed ID: 31994808
[TBL] [Abstract][Full Text] [Related]
18. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S; Li J; Wu Y; Jiang Y
J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
