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 *

240 related articles for article (PubMed ID: 17715287)

  • 21. Clinical features and genetic analysis of children with hyperekplexia in Korea.
    Lee CG; Kwon MJ; Yu HJ; Nam SH; Lee J; Ki CS; Lee M
    J Child Neurol; 2013 Jan; 28(1):90-4. PubMed ID: 22532536
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Hyperekplexia-like syndromes without mutations in the GLRA1 gene.
    Vergouwe MN; Tijssen MA; Shiang R; van Dijk JG; al Shahwan S; Ophoff RA; Frants RR
    Clin Neurol Neurosurg; 1997 Aug; 99(3):172-8. PubMed ID: 9350397
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.
    Tunc T; Mungan IA; Okulu E; Tiras ST; Tekin M; Atasay B; Arsan S; Turmen T
    Genet Couns; 2009; 20(3):275-9. PubMed ID: 19852435
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.
    Becker K; Breitinger HG; Humeny A; Meinck HM; Dietz B; Aksu F; Becker CM
    Eur J Hum Genet; 2008 Feb; 16(2):223-8. PubMed ID: 18043720
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Hyperekplexia: a non-epileptic startle disorder.
    Rajadhyaksha SB; Bahl VB
    Indian Pediatr; 2002 Aug; 39(8):773-6. PubMed ID: 12196692
    [No Abstract]   [Full Text] [Related]  

  • 26. Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.
    Lerman-Sagie T; Watemberg N; Vinkler C; Fishhof J; Leshinsky-Silver E; Lev D
    J Child Neurol; 2004 Jul; 19(7):522-5. PubMed ID: 15526957
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A 14-year-old girl with hyperekplexia having GLRB mutations.
    Mine J; Taketani T; Otsubo S; Kishi K; Yamaguchi S
    Brain Dev; 2013 Aug; 35(7):660-3. PubMed ID: 23182654
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
    Vergouwe MN; Tijssen MA; Peters AC; Wielaard R; Frants RR
    Ann Neurol; 1999 Oct; 46(4):634-8. PubMed ID: 10514101
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case.
    Chen CH; Lee HF; Chi CS
    Acta Paediatr Taiwan; 2007; 48(1):20-2. PubMed ID: 19653412
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
    Elmslie FV; Hutchings SM; Spencer V; Curtis A; Covanis T; Gardiner RM; Rees M
    J Med Genet; 1996 May; 33(5):435-6. PubMed ID: 8733061
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.
    Doria Lamba L; Giribaldi G; De Negri E; Follo R; De Grandis E; Pintaudi M; Veneselli E
    J Child Neurol; 2007 Jun; 22(6):769-72. PubMed ID: 17641268
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Sporadic major hyperekplexia in neonates and infants: clinical manifestations and outcome.
    Shahar E; Raviv R
    Pediatr Neurol; 2004 Jul; 31(1):30-4. PubMed ID: 15246489
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Hyperekplexia: a syndrome of pathological startle responses.
    Sáenz-Lope E; Herranz-Tanarro FJ; Masdeu JC; Chacón Peña JR
    Ann Neurol; 1984 Jan; 15(1):36-41. PubMed ID: 6424556
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
    Mine J; Taketani T; Yoshida K; Yokochi F; Kobayashi J; Maruyama K; Nanishi E; Ono M; Yokoyama A; Arai H; Tamaura S; Suzuki Y; Otsubo S; Hayashi T; Kimura M; Kishi K; Yamaguchi S
    Dev Med Child Neurol; 2015 Apr; 57(4):372-7. PubMed ID: 25356525
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in
    Gupta NP; Verma V; Chopra S; Choudhury V
    BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33323420
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
    Thomas RH; Chung SK; Wood SE; Cushion TD; Drew CJ; Hammond CL; Vanbellinghen JF; Mullins JG; Rees MI
    Brain; 2013 Oct; 136(Pt 10):3085-95. PubMed ID: 24030948
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The startle syndromes: physiology and treatment.
    Dreissen YE; Tijssen MA
    Epilepsia; 2012 Dec; 53 Suppl 7():3-11. PubMed ID: 23153204
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Late-onset childhood occipital epilepsy (Gastaut type): a family study.
    Grosso S; Vivarelli R; Gobbi G; Di Bartolo R; Berardi R; Balestri P
    Eur J Paediatr Neurol; 2008 Sep; 12(5):421-6. PubMed ID: 18249143
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Molecular bases of hereditary hyperekplexia].
    Giménez C; Zafra F; López-Corcuera B; Aragón C
    Rev Neurol; 2008 Dec 16-31; 47(12):648-52. PubMed ID: 19085882
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical profile of hereditary spherocytosis in North India.
    Panigrahi I; Phadke SR; Agarwal A; Gambhir S; Agarwal SS
    J Assoc Physicians India; 2002 Nov; 50():1360-7. PubMed ID: 12583462
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.