Genetic diagnosis of basal ganglia disease in childhood

2022 ◽  
Author(s):  
Heidy Baide‐Mairena ◽  
Laura Marti‐Sánchez ◽  
Anna Marcé‐Grau ◽  
Ana Cazurro‐Gutiérrez ◽  
Angel Sanchez‐Montanez ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Genetic Diagnosis ◽  
Basal Ganglia Disease

Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Distelmaier ◽  
P Huppke ◽  
J Schaper ◽  
E Morava ◽  
E Mayatepek ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease

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

Neurology ◽  
2012 ◽  
Vol 80 (3) ◽  
pp. 261-267 ◽  
Author(s):  
B. Tabarki ◽  
S. Al-Shafi ◽  
S. Al-Shahwan ◽  
Z. Azmat ◽  
A. Al-Hashem ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

2017 ◽  
Vol 3 (6) ◽  
pp. a001909 ◽  
Author(s):  
Whitney Whitford ◽  
Isobel Hawkins ◽  
Emma Glamuzina ◽  
Francessa Wilson ◽  
Andrew Marshall ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Promoter Region ◽  
Compound Heterozygous ◽  
Basal Ganglia Disease

scholarly journals Depression in adult patients with biotin responsive basal ganglia disease

2016 ◽  
Vol 10 (4) ◽  
pp. 223-225 ◽  
Author(s):  
Dalal K. Bubshait ◽  
Asif Rashid ◽  
Mohammed A. Al-Owain ◽  
Raashda A. Sulaiman
Keyword(s):  
Basal Ganglia ◽  
Adult Patients ◽  
Basal Ganglia Disease

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

10.1038/ng571 ◽  
2001 ◽  
Vol 28 (4) ◽  
pp. 350-354 ◽  
Author(s):  
Andrew R.J. Curtis ◽  
Constanze Fey ◽  
Christopher M Morris ◽  
Laurence A. Bindoff ◽  
Paul G. Ince ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Adult Onset ◽  
Gene Encoding ◽  
Basal Ganglia Disease

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

2016 ◽  
Vol 39 (2) ◽  
pp. 117-125 ◽  
Author(s):  
Hussein Algahtani ◽  
Saeed Ghamdi ◽  
Bader Shirah ◽  
Bader Alharbi ◽  
Raghad Algahtani ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Diagnosis And Treatment ◽  
Delay In Diagnosis ◽  
Basal Ganglia Disease

scholarly journals Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease.

1995 ◽  
Vol 59 (4) ◽  
pp. 453-454 ◽  
Author(s):  
Y M Hart ◽  
D Tampieri ◽  
E Andermann ◽  
F Andermann ◽  
M Connolly ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease ◽  
Paroxysmal Dystonia

scholarly journals A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child

Medicine ◽  
2016 ◽  
Vol 95 (40) ◽  
pp. e4819 ◽  
Author(s):  
Mohammad F. Aljabri ◽  
Naglaa M. Kamal ◽  
Moinuddin Arif ◽  
Asrar M. AlQaedi ◽  
Enas Y.M. Santali
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Teaching NeuroImages: Biotin-responsive basal ganglia disease

Neurology ◽  
2016 ◽  
Vol 86 (17) ◽  
pp. e184-e185 ◽  
Author(s):  
Julian Schwarting ◽  
Rahul Lakshmanan ◽  
Indran Davagnanam
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease
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