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Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 4, p. 1363, doi. 10.1007/s13760-024-02598-7
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- Article
JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
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- Neurological Sciences, 2024, v. 45, n. 8, p. 3829, doi. 10.1007/s10072-024-07419-6
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- Article
Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 53, doi. 10.1002/mdc3.13933
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- Article
White matter abnormalities in 15 subjects with SPG76.
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- Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
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- Article
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
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- Neurological Sciences, 2023, v. 44, n. 12, p. 4359, doi. 10.1007/s10072-023-06932-4
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- Article
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 477, doi. 10.1159/000531507
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- Article
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 5, p. 405, doi. 10.1159/000529678
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- Article
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2599, doi. 10.1007/s10072-023-06707-x
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- Article
Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures.
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- Epilepsia Open, 2023, v. 8, n. 2, p. 479, doi. 10.1002/epi4.12716
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- Article
Familial Hypermanganesemia in Iran.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 850, doi. 10.1002/mdc3.13723
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- Article
A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 331, doi. 10.1002/mdc3.13624
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- Article
The second family affected with a PRDM8-related disease.
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- Neurological Sciences, 2022, v. 43, n. 6, p. 3847, doi. 10.1007/s10072-021-05815-w
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- Article
Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01237-5
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- Article
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
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- 2022
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- Publication type:
- journal article
Identification of let-7f and miR-338 as plasma-based biomarkers for sporadic amyotrophic lateral sclerosis using meta-analysis and empirical validation.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05067-4
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- Article
Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 944, doi. 10.1002/mdc3.13251
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- Article
Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 440, doi. 10.1002/ajmg.a.61983
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- Publication type:
- Article
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 2, p. 640, doi. 10.1007/s00415-020-10171-4
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- Article
Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 2, p. 275, doi. 10.1002/mdc3.13123
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- Article
Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.
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- Current Journal of Neurology, 2020, v. 19, n. 4, p. 200
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- Article
Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 706, doi. 10.1002/mdc3.12990
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- Publication type:
- Article
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1240
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- Publication type:
- Article
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
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- Molecular Genetics & Genomics, 2020, v. 295, n. 4, p. 1039, doi. 10.1007/s00438-020-01663-z
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- Publication type:
- Article
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 62, doi. 10.1159/000506530
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- Publication type:
- Article
The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
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- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 451, doi. 10.1007/s10815-019-01660-1
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- Publication type:
- Article
A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
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- Molecular Vision, 2020, v. 26, p. 757
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- Publication type:
- Article
Late‐Onset Mitochondrial Membrane Protein–Associated Neurodegeneration With Extensive Brain Iron Deposition.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 120, doi. 10.1002/mdc3.12868
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- Article
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1507, doi. 10.1002/ajmg.a.61184
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- Publication type:
- Article
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
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- Cell Journal (Yakhteh), 2019, v. 21, n. 1, p. 70, doi. 10.22074/cellj.2019.5734
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- Article
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.
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- 2018
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- Publication type:
- journal article
Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature.
- Published in:
- 2018
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- Publication type:
- case study
Action Myoclonus and Seizure in Kufor‐Rakeb Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 195, doi. 10.1002/mdc3.12570
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- Publication type:
- Article
Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 5, p. 772, doi. 10.1002/mdc3.12512
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- Publication type:
- Article
An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2014, v. 17, n. 10, p. 735
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- Article
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
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- Movement Disorders, 2013, v. 28, n. 2, p. 228, doi. 10.1002/mds.25271
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- Publication type:
- Article
Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
- Published in:
- Journal of Dermatology, 2012, v. 39, n. 4, p. 375, doi. 10.1111/j.1346-8138.2011.01412.x
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- Article
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.
- Published in:
- Clinical & Experimental Ophthalmology, 2008, v. 36, n. 1, p. 26, doi. 10.1111/j.1442-9071.2007.01649.x
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- Publication type:
- Article