Found: 37
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A Case of MPAN with "Eye of the Tiger Sign," Mimicking PKAN.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 5, p. 693, doi. 10.1002/mdc3.13493
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- Article
Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.
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- Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297
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- Article
Four Novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD).
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 4, p. 6668, doi. 10.3390/ijms16046668
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- Article
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
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- Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00224-1
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- Article
Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
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- Turkish Journal of Gastroenterology, 2015, v. 26, n. 3, p. 251, doi. 10.5152/tjg.2015.6339
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- Article
Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1).
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106656
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- Article
Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094069
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- Article
Three novel mutations in Iranian patients with Tay-Sachs disease.
- Published in:
- 2014
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- Publication type:
- journal article
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease.
- Published in:
- Iranian Biomedical Journal, 2014, v. 18, n. 2, p. 114, doi. 10.6091/ibj.1137.2013
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- Article
Molecular and clinical investigation of Iranian patients with Friedreich ataxia.
- Published in:
- 2014
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- Publication type:
- journal article
Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia.
- Published in:
- Iranian Biomedical Journal, 2014, v. 18, n. 1, p. 28, doi. 10.6091/ibj.1235.2013
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- Article
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
- Published in:
- 2012
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- Publication type:
- journal article
A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease.
- Published in:
- Iranian Biomedical Journal, 2012, v. 16, n. 4, p. 223, doi. 10.6091/ibj.1077.2012
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- Publication type:
- Article
Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity.
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- Iranian Biomedical Journal, 2012, v. 16, n. 3, p. 169, doi. 10.6091/ibj.1049.2012
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- Article
Late-onset pompe disease in Iran: A clinical and genetic report.
- Published in:
- 2017
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- Publication type:
- journal article
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
- Published in:
- Molecular Biology Reports, 2014, v. 41, n. 9, p. 6211, doi. 10.1007/s11033-014-3500-3
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- Article
Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber’s hereditary optic neuropathy (LHON)
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- Molecular Biology Reports, 2013, v. 40, n. 12, p. 6837, doi. 10.1007/s11033-013-2801-2
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- Article
Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia).
- Published in:
- Molecular Biology Reports, 2013, v. 40, n. 11, p. 6495, doi. 10.1007/s11033-013-2767-0
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- Article
Investigation of the Mitochondrial ATPase 6/8 and tRNA<sup>Lys</sup> Genes Mutations in Autism.
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- Cell Journal (Yakhteh), 2012, v. 14, n. 2, p. 98
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- Publication type:
- Article
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
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- Metabolic Brain Disease, 2022, v. 37, n. 8, p. 2669, doi. 10.1007/s11011-021-00669-9
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- Article
Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene.
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- Pediatric Dermatology, 2013, v. 30, n. 6, p. e265, doi. 10.1111/pde.12065
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- Article
Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.
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- Iranian Journal of Child Neurology, 2019, v. 13, n. 4, p. 37
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- Article
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
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- Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 25
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- Article
Clinical and Molecular Study of NPC in Iran: Report of 5 Novel Mutations.
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- 2015
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- Abstract
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
- Published in:
- 2015
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- Case Study
Measuring Serum Level of Ionized Magnesium in Patients with Migraine.
- Published in:
- Iranian Journal of Child Neurology, 2015, v. 9, n. 3, p. 13
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- Publication type:
- Article
A Novel Mutation of GDAP1 Associated with Charcot-Marie-Tooth Disease in An Iranian Family.
- Published in:
- 2012
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- Publication type:
- Journal Article
A Novel Mutation of GDAP1 Associated with Charcot-Marie-Tooth Disease in An Iranian Family.
- Published in:
- 2012
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- Publication type:
- Case Study
L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report.
- Published in:
- 2011
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- Publication type:
- Journal Article
L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report.
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- Iranian Journal of Child Neurology, 2011, v. 5, n. 4, p. 37
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- Publication type:
- Article
Recurrence of Primary Hyperoxaluria After Kidney Transplantation.
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- Iranian Journal of Kidney Diseases, 2011, v. 5, n. 6, p. 429
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- Article
Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series.
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- 2013
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- Publication type:
- Case Study
Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.
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- 2022
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- Publication type:
- Case Study
A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.
- Published in:
- Neurology International, 2019, v. 11, n. 1, p. 9, doi. 10.4081/ni.2019.7959
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- Publication type:
- Article
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.
- Published in:
- Therapeutics & Clinical Risk Management, 2017, v. 13, p. 725, doi. 10.2147/TCRM.S119967
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- Article
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.
- Published in:
- 2017
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- Publication type:
- journal article
New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran.
- Published in:
- Iranian Journal of Radiology, 2014, v. 11, n. 2, p. 1, doi. 10.5812/iranjradiol.6913
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- Article