BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 35422141)

  • 1. Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
    Saldaris J; Leonard H; Jacoby P; Marsh ED; Benke TA; Demarest S; Downs J
    J Child Neurol; 2022 May; 37(6):541-547. PubMed ID: 35422141
    [TBL] [Abstract][Full Text] [Related]  

  • 2. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
    Demarest ST; Olson HE; Moss A; Pestana-Knight E; Zhang X; Parikh S; Swanson LC; Riley KD; Bazin GA; Angione K; Niestroj LM; Lal D; Juarez-Colunga E; Benke TA
    Epilepsia; 2019 Aug; 60(8):1733-1742. PubMed ID: 31313283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
    Mulcahey PJ; Tang S; Takano H; White A; Davila Portillo DR; Kane OM; Marsh ED; Zhou Z; Coulter DA
    Exp Neurol; 2020 Oct; 332():113388. PubMed ID: 32585155
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study.
    Saldaris JM; Jacoby P; Marsh ED; Suter B; Leonard H; Olson HE; Rajaraman R; Pestana-Knight E; Weisenberg J; Price D; Drummond C; Benke TA; Demarest S; Downs J
    Epilepsy Res; 2024 Feb; 200():107287. PubMed ID: 38237219
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
    Tangarorang J; Leonard H; Epstein A; Downs J
    Am J Med Genet A; 2019 Feb; 179(2):249-256. PubMed ID: 30561084
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
    Kluckova D; Kolnikova M; Medova V; Bognar C; Foltan T; Svecova L; Gnip A; Kadasi L; Soltysova A; Ficek A
    Epilepsy Res; 2021 Oct; 176():106699. PubMed ID: 34229227
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
    Ziniel SI; Mackie A; Saldaris J; Leonard H; Jacoby P; Marsh ED; Suter B; Pestana-Knight E; Olson HE; Price D; Weisenberg J; Rajaraman R; VanderVeen G; Benke TA; Downs J; Demarest S
    Epilepsy Res; 2023 Nov; 197():107231. PubMed ID: 37751639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CDKL5 deficiency disorder: clinical features, diagnosis, and management.
    Leonard H; Downs J; Benke TA; Swanson L; Olson H; Demarest S
    Lancet Neurol; 2022 Jun; 21(6):563-576. PubMed ID: 35483386
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
    MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
    Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.
    Lupori L; Sagona G; Fuchs C; Mazziotti R; Stefanov A; Putignano E; Napoli D; Strettoi E; Ciani E; Pizzorusso T
    Hum Mol Genet; 2019 Sep; 28(17):2851-2861. PubMed ID: 31108505
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
    Keeley J; Benson-Goldberg S; Saldaris J; Lariviere J; Leonard H; Marsh ED; Demarest ST; Benke TA; Jacoby P; Downs J
    Am J Med Genet A; 2024 Jul; 194(7):e63570. PubMed ID: 38425131
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.
    Yan Y; He D; Wu J; Hou R; Sun K; Li L
    Ital J Pediatr; 2020 Feb; 46(1):27. PubMed ID: 32111237
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.
    Leonard H; Junaid M; Wong K; Demarest S; Downs J
    Epilepsy Res; 2021 Jan; 169():106521. PubMed ID: 33341033
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials.
    Saldaris JM; Jacoby P; Leonard H; Benke TA; Demarest S; Marsh ED; Downs J
    Epilepsy Behav; 2023 Feb; 139():109069. PubMed ID: 36634535
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.
    Bernardo P; Ferretti A; Terrone G; Santoro C; Bravaccio C; Striano S; Coppola A; Striano P
    Epileptic Disord; 2019 Jun; 21(3):271-277. PubMed ID: 31225800
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CDKL5 deficiency disorder in males: Five new variants and review of the literature.
    Siri B; Varesio C; Freri E; Darra F; Gana S; Mei D; Porta F; Fontana E; Galati G; Solazzi R; Niceta M; Veggiotti P; Alfei E
    Eur J Paediatr Neurol; 2021 Jul; 33():9-20. PubMed ID: 33989939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
    Amin S; Møller RS; Aledo-Serrano A; Arzimanoglou A; Bager P; Jóźwiak S; Kluger GJ; López-Cabeza S; Nabbout R; Partridge CA; Schubert-Bast S; Specchio N; Kälviäinen R
    Epilepsia Open; 2024 Jun; 9(3):832-849. PubMed ID: 38450883
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional abilities in children and adults with the CDKL5 disorder.
    Fehr S; Downs J; Ho G; de Klerk N; Forbes D; Christodoulou J; Williams S; Leonard H
    Am J Med Genet A; 2016 Nov; 170(11):2860-2869. PubMed ID: 27528505
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
    Kobayashi Y; Tohyama J; Takahashi Y; Goto T; Haginoya K; Inoue T; Kubota M; Fujita H; Honda R; Ito M; Kishimoto K; Nakamura K; Sakai Y; Takanashi JI; Tanaka M; Tanda K; Tominaga K; Yoshioka S; Kato M; Nakashima M; Saitsu H; Matsumoto N
    Brain Dev; 2021 Apr; 43(4):505-514. PubMed ID: 33436160
    [TBL] [Abstract][Full Text] [Related]  

  • 20. AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.
    Yennawar M; White RS; Jensen FE
    J Neurosci; 2019 Jun; 39(24):4814-4828. PubMed ID: 30952813
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.