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Items: 1 to 20 of 135

1.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26.

2.

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.

Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W.

Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Review.

3.

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F.

Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.

PMID:
20065143
4.

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Aljabri MF, Kamal NM, Arif M, AlQaedi AM, Santali EY.

Medicine (Baltimore). 2016 Oct;95(40):e4819.

5.

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.

Algahtani H, Ghamdi S, Shirah B, Alharbi B, Algahtani R, Bazaid A.

Neurol Res. 2017 Feb;39(2):117-125. doi: 10.1080/01616412.2016.1263176.

PMID:
27905264
6.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N.

BMC Med Genet. 2010 Dec 22;11:171. doi: 10.1186/1471-2350-11-171.

7.

Biotin-responsive basal ganglia disease: a novel entity.

Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O.

Brain. 1998 Jul;121 ( Pt 7):1267-79.

PMID:
9679779
8.

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C.

PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055.

9.

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F.

J Hum Genet. 2015 Jul;60(7):381-5. doi: 10.1038/jhg.2015.35.

PMID:
25876998
10.

Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A.

Brain Pathol. 2014 Apr;24(3):270-9. doi: 10.1111/bpa.12117.

PMID:
24372704
11.

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G.

Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c.

PMID:
23269594
12.

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

Ygberg S, Naess K, Eriksson M, Stranneheim H, Lesko N, Barbaro M, Wibom R, Wang C, Wedell A, Wickström R.

Eur J Paediatr Neurol. 2016 May;20(3):457-61. doi: 10.1016/j.ejpn.2016.01.009.

PMID:
26975589
13.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B.

Mov Disord. 2012 Sep 1;27(10):1295-8. doi: 10.1002/mds.25008.

PMID:
22777947
14.
15.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.

Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013.

PMID:
23423671
16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
17.

Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.

Kassem H, Wafaie A, Alsuhibani S, Farid T.

AJNR Am J Neuroradiol. 2014 Oct;35(10):1990-5. doi: 10.3174/ajnr.A3966.

18.

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J.

Neurology. 2002 Oct 8;59(7):983-9.

PMID:
12374138
19.

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70.

PMID:
15980210
20.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386

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