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 *

119 related articles for article (PubMed ID: 28455667)

  • 21. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
    Wan J; Khanna R; Sandusky M; Papazian DM; Jen JC; Baloh RW
    Neurology; 2005 Jun; 64(12):2090-7. PubMed ID: 15985579
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
    Stam AH; Luijckx GJ; Poll-Thé BT; Ginjaar IB; Frants RR; Haan J; Ferrari MD; Terwindt GM; van den Maagdenberg AM
    J Neurol Neurosurg Psychiatry; 2009 Oct; 80(10):1125-9. PubMed ID: 19520699
    [TBL] [Abstract][Full Text] [Related]  

  • 23. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
    Mantuano E; Romano S; Veneziano L; Gellera C; Castellotti B; Caimi S; Testa D; Estienne M; Zorzi G; Bugiani M; Rajabally YA; Barcina MJ; Servidei S; Panico A; Frontali M; Mariotti C
    J Neurol Sci; 2010 Apr; 291(1-2):30-6. PubMed ID: 20129625
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation.
    Okamoto N; Arai H; Onishi T; Mizuguchi T; Matsumoto N
    Congenit Anom (Kyoto); 2020 Jan; 60(1):40-41. PubMed ID: 30805980
    [No Abstract]   [Full Text] [Related]  

  • 26. Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
    Pradotto L; Mencarelli M; Bigoni M; Milesi A; Di Blasio A; Mauro A
    J Neurol Sci; 2016 Dec; 371():81-84. PubMed ID: 27871455
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A case of novel CACNA1A mutation causing type 2 episodic ataxia.
    Idiculla PS; Siddiqui JH
    Neurol Sci; 2021 Jun; 42(6):2577-2578. PubMed ID: 33462637
    [No Abstract]   [Full Text] [Related]  

  • 28. De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
    Ullman NL; Smith-Hicks CL; Desai S; Stafstrom CE
    Pediatr Neurol; 2018 Aug; 85():76-78. PubMed ID: 29807643
    [No Abstract]   [Full Text] [Related]  

  • 29. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
    Travaglini L; Nardella M; Bellacchio E; D'Amico A; Capuano A; Frusciante R; Di Capua M; Cusmai R; Barresi S; Morlino S; Fernández-Fernández JM; Trivisano M; Specchio N; Valeriani M; Vigevano F; Bertini E; Zanni G
    Eur J Paediatr Neurol; 2017 May; 21(3):450-456. PubMed ID: 28007337
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.
    Barros J; Damásio J; Tuna A; Alves I; Silveira I; Pereira-Monteiro J; Sequeiros J; Alonso I; Sousa A; Coutinho P
    JAMA Neurol; 2013 Feb; 70(2):235-40. PubMed ID: 23407676
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
    Wessel K; Suleiman J; Khalaf TE; Kishore S; Rolfs A; El-Hattab AW
    BMC Med Genet; 2017 Oct; 18(1):119. PubMed ID: 29070031
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [17q12 microduplication: a case report and review of the literature].
    Barbera-Perez PM; Vara-Callau M; Ruiz Del Olmo-Izuzquiza JI; Faci-Alcalde E
    Rev Neurol; 2019 Jul; 69(1):41-42. PubMed ID: 31236911
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
    Cross JH; Arora R; Heckemann RA; Gunny R; Chong K; Carr L; Baldeweg T; Differ AM; Lench N; Varadkar S; Sirimanna T; Wassmer E; Hulton SA; Ognjanovic M; Ramesh V; Feather S; Kleta R; Hammers A; Bockenhauer D
    Dev Med Child Neurol; 2013 Sep; 55(9):846-56. PubMed ID: 23924083
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Developmental outcome in 49,XXXXY Klinefelter syndrome.
    Sheridan MK; Radlinski SS; Kennedy MD
    Dev Med Child Neurol; 1990 Jun; 32(6):532-9. PubMed ID: 1694798
    [TBL] [Abstract][Full Text] [Related]  

  • 36. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
    Damaj L; Lupien-Meilleur A; Lortie A; Riou É; Ospina LH; Gagnon L; Vanasse C; Rossignol E
    Eur J Hum Genet; 2015 Nov; 23(11):1505-12. PubMed ID: 25735478
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.
    Marti S; Baloh RW; Jen JC; Straumann D; Jung HH
    Eur Neurol; 2008; 60(1):16-20. PubMed ID: 18437043
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation.
    Shimmura M; Uehara T; Yamashita K; Shigeto H; Yamasaki R; Ishikawa K; Kira JI
    J Neurol Sci; 2017 Oct; 381():4-6. PubMed ID: 28991713
    [No Abstract]   [Full Text] [Related]  

  • 39. A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis.
    Park D; Kim SH; Lee YJ; Song GJ; Park JS
    Acta Neurol Belg; 2018 Mar; 118(1):137-139. PubMed ID: 29442233
    [No Abstract]   [Full Text] [Related]  

  • 40. 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 Jul; 39(7):1231-1236. PubMed ID: 38576116
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.