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 *

292 related articles for article (PubMed ID: 29086067)

  • 1. Emerging Monogenic Complex Hyperkinetic Disorders.
    Carecchio M; Mencacci NE
    Curr Neurol Neurosci Rep; 2017 Oct; 17(12):97. PubMed ID: 29086067
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
    El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
    Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
    Marzin P; Mignot C; Dorison N; Dufour L; Ville D; Kaminska A; Panagiotakaki E; Dienpendaele AS; Penniello MJ; Nougues MC; Keren B; Depienne C; Nava C; Milh M; Villard L; Richelme C; Rivier C; Whalen S; Heron D; Lesca G; Doummar D
    Brain Dev; 2018 Oct; 40(9):768-774. PubMed ID: 29861155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
    Menke LA; Engelen M; Alders M; Odekerken VJ; Baas F; Cobben JM
    J Child Neurol; 2016 Dec; 31(14):1598-1601. PubMed ID: 27625011
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
    Carecchio M; Invernizzi F; Gonzàlez-Latapi P; Panteghini C; Zorzi G; Romito L; Leuzzi V; Galosi S; Reale C; Zibordi F; Joseph AP; Topf M; Piano C; Bentivoglio AR; Girotti F; Morana P; Morana B; Kurian MA; Garavaglia B; Mencacci NE; Lubbe SJ; Nardocci N
    Mov Disord; 2019 Oct; 34(10):1516-1527. PubMed ID: 31216378
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
    Carecchio M; Mencacci NE; Iodice A; Pons R; Panteghini C; Zorzi G; Zibordi F; Bonakis A; Dinopoulos A; Jankovic J; Stefanis L; Bhatia KP; Monti V; R'Bibo L; Veneziano L; Garavaglia B; Fusco C; Wood N; Stamelou M; Nardocci N
    Parkinsonism Relat Disord; 2017 Aug; 41():37-43. PubMed ID: 28511835
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing in paediatric patients with movement disorders.
    Kwong AK; Tsang MH; Fung JL; Mak CC; Chan KL; Rodenburg RJT; Lek M; Huang S; Pajusalu S; Yau MM; Tsoi C; Fung S; Liu KT; Ma CK; Wong S; Yau EK; Tai SM; Fung EL; Wu NS; Tsung LY; Smeitink J; Chung BH; Fung CW
    Orphanet J Rare Dis; 2021 Jan; 16(1):32. PubMed ID: 33446253
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.
    Morales-Briceño H; Mohammad SS; Post B; Fois AF; Dale RC; Tchan M; Fung VSC
    Brain; 2020 Mar; 143(3):751-770. PubMed ID: 31800013
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
    Okamoto N; Miya F; Kitai Y; Tsunoda T; Kato M; Saitoh S; Kanemura Y; Kosaki K
    Neurol Sci; 2021 Jul; 42(7):2975-2978. PubMed ID: 33704598
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.
    Axeen E; Bell E; Robichaux Viehoever A; Schreiber JM; Sidiropoulos C; Goodkin HP
    Pediatr Neurol; 2021 Aug; 121():28-32. PubMed ID: 34139551
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Genetics of idiopathic epilepsies].
    Weber YG; Lerche H
    Nervenarzt; 2013 Feb; 84(2):151-6. PubMed ID: 23392265
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
    Schirinzi T; Garone G; Travaglini L; Vasco G; Galosi S; Rios L; Castiglioni C; Barassi C; Battaglia D; Gambardella ML; Cantonetti L; Graziola F; Marras CE; Castelli E; Bertini E; Capuano A; Leuzzi V
    Parkinsonism Relat Disord; 2019 Apr; 61():19-25. PubMed ID: 30642806
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
    Ohba C; Shiina M; Tohyama J; Haginoya K; Lerman-Sagie T; Okamoto N; Blumkin L; Lev D; Mukaida S; Nozaki F; Uematsu M; Onuma A; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Tanaka F; Kato M; Ogata K; Saitsu H; Matsumoto N
    Epilepsia; 2015 Jun; 56(6):841-8. PubMed ID: 25864721
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Increased diagnostic yield in complex dystonia through exome sequencing.
    Wirth T; Tranchant C; Drouot N; Keren B; Mignot C; Cif L; Lefaucheur R; Lion-François L; Méneret A; Gras D; Roze E; Laroche C; Burbaud P; Bannier S; Lagha-Boukbiza O; Spitz MA; Laugel V; Bereau M; Ollivier E; Nitschke P; Doummar D; Rudolf G; Anheim M; Chelly J
    Parkinsonism Relat Disord; 2020 May; 74():50-56. PubMed ID: 32334381
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The expanding spectrum of movement disorders in genetic epilepsies.
    Papandreou A; Danti FR; Spaull R; Leuzzi V; Mctague A; Kurian MA
    Dev Med Child Neurol; 2020 Feb; 62(2):178-191. PubMed ID: 31784983
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
    Powis Z; Towne MC; Hagman KDF; Blanco K; Palmaer E; Castro A; Sajan SA; Radtke K; Feyma TJ; Juliette K; Tang S; Sidiropoulos C
    Clin Genet; 2020 Feb; 97(2):305-311. PubMed ID: 31628766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Infantile-onset hand dystonia with intellectual disability: Clues to
    Breen DP; Mercimek-Andrews S; Lang AE
    Neurology; 2018 Feb; 90(7):333-335. PubMed ID: 29343471
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 15.