These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 38681799)

  • 1. Developing a pathway to clinical trials for
    Fox PM; Malepati S; Manaster L; Rossignol E; Noebels JL
    Ther Adv Rare Dis; 2024; 5():26330040241245725. PubMed ID: 38681799
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characterization of CACNA1A-related disease.
    Lipman AR; Fan X; Shen Y; Chung WK
    Clin Genet; 2022 Oct; 102(4):288-295. PubMed ID: 35722745
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The genotype-phenotype correlations of the
    Kessi M; Chen B; Pang N; Yang L; Peng J; He F; Yin F
    Front Mol Neurosci; 2023; 16():1222321. PubMed ID: 37555011
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S
    Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Zhang L; Wen Y; Zhang Q; Chen Y; Wang J; Shi K; Du L; Bao X
    Front Pediatr; 2020; 8():577544. PubMed ID: 33425808
    [No Abstract]   [Full Text] [Related]  

  • 6.
    Li XL; Li ZJ; Liang XY; Liu DT; Jiang M; Gao LD; Li H; Tang XQ; Shi YW; Li BM; He N; Li B; Bian WJ; Yi YH; Cheng CF; Wang J
    Front Mol Neurosci; 2022; 15():860662. PubMed ID: 35600082
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
    Le Roux M; Barth M; Gueden S; Desbordes de Cepoy P; Aeby A; Vilain C; Hirsch E; de Saint Martin A; Portes VD; Lesca G; Riquet A; Chaton L; Villeneuve N; Villard L; Cances C; Valton L; Renaldo F; Vermersch AI; Altuzarra C; Nguyen-Morel MA; Van Gils J; Angelini C; Biraben A; Arnaud L; Riant F; Van Bogaert P
    Eur J Paediatr Neurol; 2021 Jul; 33():75-85. PubMed ID: 34102571
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in
    Mammadova D; Kraus C; Leis T; Popp B; Zweier C; Reis A; Trollmann R
    Front Neurol; 2024; 15():1458109. PubMed ID: 39416668
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.
    Alehabib E; Esmaeilizadeh Z; Ranji-Burachaloo S; Tafakhori A; Darvish H; Movafagh A
    Orphanet J Rare Dis; 2021 Nov; 16(1):461. PubMed ID: 34727962
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
    Indelicato E; Boesch S
    Handb Exp Pharmacol; 2023; 279():227-248. PubMed ID: 36592223
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The complexities of CACNA1A in clinical neurogenetics.
    Hommersom MP; van Prooije TH; Pennings M; Schouten MI; van Bokhoven H; Kamsteeg EJ; van de Warrenburg BPC
    J Neurol; 2022 Jun; 269(6):3094-3108. PubMed ID: 34806130
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A roadmap to cure CHD2-related disorders.
    Prince S; Bonkowski E; McGraw C; SanInocencio C; Mefford HC; Carvill G; Broadbent B
    Ther Adv Rare Dis; 2024; 5():26330040241283749. PubMed ID: 39391213
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Royer-Bertrand B; Jequier Gygax M; Cisarova K; Rosenfeld JA; Bassetti JA; Moldovan O; O'Heir E; Burrage LC; Allen J; Emrick LT; Eastman E; Kumps C; Abbas S; Van Winckel G; ; Chabane N; Zackai EH; Lebon S; Keena B; Bhoj EJ; Umair M; Li D; Donald KA; Superti-Furga A
    Mol Autism; 2021 Oct; 12(1):69. PubMed ID: 34702355
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
    Niu X; Yang Y; Chen Y; Cheng M; Liu M; Ding C; Tian X; Yang Z; Jiang Y; Zhang Y
    Dev Med Child Neurol; 2022 Jan; 64(1):105-111. PubMed ID: 34263451
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epilepsy and episodic ataxia type 2: family study and review of the literature.
    Verriello L; Pauletto G; Nilo A; Lonigro I; Betto E; Valente M; Curcio F; Gigli GL
    J Neurol; 2021 Nov; 268(11):4296-4302. PubMed ID: 33983550
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
    Tonelli A; D'Angelo MG; Salati R; Villa L; Germinasi C; Frattini T; Meola G; Turconi AC; Bresolin N; Bassi MT
    J Neurol Sci; 2006 Feb; 241(1-2):13-7. PubMed ID: 16325861
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.
    Rushing GV; Sills J
    Ther Adv Rare Dis; 2024; 5():26330040241249763. PubMed ID: 39070093
    [TBL] [Abstract][Full Text] [Related]  

  • 19. From Genotype to Phenotype: Expanding the Clinical Spectrum of
    Indelicato E; Boesch S
    Front Neurol; 2021; 12():639994. PubMed ID: 33737904
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report.
    Vithayathil J; Freeman C; Jacobwitz M; Schwartz ES; Agarwal S
    BMC Neurol; 2022 Dec; 22(1):466. PubMed ID: 36494636
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.