301 related articles for article (PubMed ID: 29397530)
1. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T; Graziola F; Nicita F; Travaglini L; Stregapede F; Valeriani M; Curatolo P; Bertini E; Vigevano F; Capuano A
Cerebellum; 2018 Aug; 17(4):489-493. PubMed ID: 29397530
[TBL] [Abstract][Full Text] [Related]
2. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT; Newcomb TM; Swoboda KJ
Pediatr Neurol; 2015 Jan; 52(1):56-64. PubMed ID: 25447930
[TBL] [Abstract][Full Text] [Related]
3. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H; Fukai R; Sakai Y; Torio M; Miyake N; Lee S; Ono H; Akamine S; Nishiyama K; Sanefuji M; Ishizaki Y; Torisu H; Saitsu H; Matsumoto N; Hara T
BMC Neurol; 2016 Sep; 16():174. PubMed ID: 27634470
[TBL] [Abstract][Full Text] [Related]
4. Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M; Ropars J; Hubert L; Boddaert N; Rio M; Bernardelli M; Desguerre I; Cormier-Daire V; Munnich A; de Lonlay P; Reilly L; Besmond C; Bahi-Buisson N
Neurogenetics; 2017 Jan; 18(1):23-28. PubMed ID: 27726050
[TBL] [Abstract][Full Text] [Related]
5. Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Lazarov E; Hillebrand M; Schröder S; Ternka K; Hofhuis J; Ohlenbusch A; Barrantes-Freer A; Pardo LA; Fruergaard MU; Nissen P; Brockmann K; Gärtner J; Rosewich H
Neurobiol Dis; 2020 Sep; 143():105012. PubMed ID: 32653672
[TBL] [Abstract][Full Text] [Related]
6. ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Stagnaro M; Pisciotta L; Gherzi M; Di Rocco M; Gurrieri F; Parrini E; Prato G; Veneselli E; De Grandis E
Eur J Paediatr Neurol; 2018 Mar; 22(2):264-271. PubMed ID: 29396171
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST; Silver K; Young R; DeBrosse SD; Ebel RS; Swoboda KJ; Acsadi G
Pediatr Neurol; 2017 Aug; 73():101-105. PubMed ID: 28647130
[TBL] [Abstract][Full Text] [Related]
9. Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
Holze N; Baalen AV; Stephani U; Helbig I; Muhle H
Neuropediatrics; 2018 Oct; 49(5):342-346. PubMed ID: 29801192
[TBL] [Abstract][Full Text] [Related]
10. ATP1A3-related disorders: An update.
Carecchio M; Zorzi G; Ragona F; Zibordi F; Nardocci N
Eur J Paediatr Neurol; 2018 Mar; 22(2):257-263. PubMed ID: 29291920
[TBL] [Abstract][Full Text] [Related]
11. Cardiac phenotype in
Balestrini S; Mikati MA; Álvarez-García-Rovés R; Carboni M; Hunanyan AS; Kherallah B; McLean M; Prange L; De Grandis E; Gagliardi A; Pisciotta L; Stagnaro M; Veneselli E; Campistol J; Fons C; Pias-Peleteiro L; Brashear A; Miller C; Samões R; Brankovic V; Padiath QS; Potic A; Pilch J; Vezyroglou A; Bye AME; Davis AM; Ryan MM; Semsarian C; Hollingsworth G; Scheffer IE; Granata T; Nardocci N; Ragona F; Arzimanoglou A; Panagiotakaki E; Carrilho I; Zucca C; Novy J; Dzieżyc K; Parowicz M; Mazurkiewicz-Bełdzińska M; Weckhuysen S; Pons R; Groppa S; Sinden DS; Pitt GS; Tinker A; Ashworth M; Michalak Z; Thom M; Cross JH; Vavassori R; Kaski JP; Sisodiya SM
Neurology; 2020 Nov; 95(21):e2866-e2879. PubMed ID: 32913013
[TBL] [Abstract][Full Text] [Related]
12. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Boonsimma P; Michael Gasser M; Netbaramee W; Wechapinan T; Srichomthong C; Ittiwut C; Wagner M; Krenn M; Zimprich F; Abicht A; Biskup S; Roser T; Borggraefe I; Suphapeetiporn K; Shotelersuk V
Gene; 2020 Jul; 749():144709. PubMed ID: 32339621
[TBL] [Abstract][Full Text] [Related]
13. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R; Mignot C; Durr A; Lesca G; Sanlaville D; Roze E; Mochel F
Dev Med Child Neurol; 2015 Dec; 57(12):1183-6. PubMed ID: 26400718
[TBL] [Abstract][Full Text] [Related]
14. ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.
Duat-Rodríguez A; Prochazkova M; Sebastian IP; Extremera VC; Legido MJ; Palero SR; Ortiz Cabrera NV
Eur J Paediatr Neurol; 2021 Sep; 34():105-109. PubMed ID: 34464766
[TBL] [Abstract][Full Text] [Related]
15. Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P; Yang AC; Frucht SJ
Tremor Other Hyperkinet Mov (N Y); 2015; 5():336. PubMed ID: 26417536
[TBL] [Abstract][Full Text] [Related]
16. Expanding Phenotype of
De Vrieze J; van de Laar IMBH; de Rijk-van Andel JF; Kamsteeg EJ; Kotsopoulos IAW; de Man SA
Child Neurol Open; 2021; 8():2329048X211048068. PubMed ID: 34761051
[TBL] [Abstract][Full Text] [Related]
17. CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.
Potic A; Nmezi B; Padiath QS
J Neurol Sci; 2015 Nov; 358(1-2):453-6. PubMed ID: 26453127
[TBL] [Abstract][Full Text] [Related]
18. Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M; Rydzanicz M; Szymanska K; Pieniawska-Smiech K; Lewandowicz-Uszynska A; Chruszcz J; Benben L; Kuzior-Plawiak M; Szyld P; Jakubiak A; Szenborn L; Ploski R; Smigiel R
Mol Genet Genomic Med; 2021 Sep; 9(9):e1772. PubMed ID: 34342181
[TBL] [Abstract][Full Text] [Related]
19. CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
Heimer G; Sadaka Y; Israelian L; Feiglin A; Ruggieri A; Marshall CR; Scherer SW; Ganelin-Cohen E; Marek-Yagel D; Tzadok M; Nissenkorn A; Anikster Y; Minassian BA; Zeev BB
J Child Neurol; 2015 Nov; 30(13):1749-56. PubMed ID: 25895915
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
