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Items: 1 to 20 of 125

1.

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.

Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M.

Neurology. 2006 Jul 11;67(1):137-9.

PMID:
16832093
2.

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.

Becker K, Hohoff C, Schmitt B, Christen HJ, Neubauer BA, Sandrieser T, Becker CM.

Hum Mutat. 2006 Oct;27(10):1061-2.

PMID:
16941485
3.

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT.

Mol Diagn. 2004;8(3):151-5.

PMID:
15771552
4.

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Brune W, Weber RG, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck HM, Becker CM.

Am J Hum Genet. 1996 May;58(5):989-97.

5.

Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia.

Poon WT, Au KM, Chan YW, Chan KY, Chow CB, Tong SF, Lam CW.

Clin Chim Acta. 2006 Feb;364(1-2):361-2. No abstract available.

PMID:
16236274
6.

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.

Coto E, Armenta D, Espinosa R, Argente J, Castro MG, Alvarez V.

Mov Disord. 2005 Dec;20(12):1626-9.

PMID:
16078201
7.
8.

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

Forsyth RJ, Gika AD, Ginjaar I, Tijssen MA.

Mov Disord. 2007 Aug 15;22(11):1643-5.

PMID:
17534957
9.

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.

10.

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.

11.

Major and minor form of hereditary hyperekplexia.

Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P.

Mov Disord. 2002 Jul;17(4):826-30.

PMID:
12210885
12.

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.

PMID:
9350397
13.

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI.

J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903.

PMID:
24970905
14.

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

Gregory ML, Guzauskas GF, Edgar TS, Clarkson KB, Srivastava AK, Holden KR.

J Child Neurol. 2008 Dec;23(12):1433-8. doi: 10.1177/0883073808320754.

PMID:
19073849
15.

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. doi: 10.1111/dmcn.12617.

16.

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

Hmami F, Wood SE, Chaouki S, Oulmaati A, Hida M, Rees MI, Chung SK, Bouharrou A.

Epileptic Disord. 2014 Sep;16(3):354-7. doi: 10.1684/epd.2014.0663.

17.

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.

PMID:
10514101
18.

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.

Köker MY, van Leeuwen K, de Boer M, Celmeli F, Metin A, Ozgür TT, Tezcan I, Sanal O, Roos D.

Eur J Clin Invest. 2009 Apr;39(4):311-9. doi: 10.1111/j.1365-2362.2009.02093.x.

PMID:
19292887
19.

Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.

Chan KK, Cherk SW, Lee HH, Poon WT, Chan AY.

J Child Neurol. 2014 Jan;29(1):111-3. doi: 10.1177/0883073812465338.

PMID:
23143726
20.

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.

Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Erratum in: Hum Mol Genet. 2013 Jun 15;22(12):2552. Longhardt, Ann-Carolyn [corrected to Longardt, Ann-Carolyn].

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