Lista de obras -

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

artículo científico publicado en 2020

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

artículo científico publicado en 2021

Alexander Disease.

artículo científico publicado en 2016

Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.

artículo científico publicado en 2017

Cinnarizine and sodium valproate as the preventive agents of pediatric migraine: A randomized double-blind placebo-controlled trial

artículo científico publicado en 2019

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

artículo científico publicado en 2018

Deep brain stimulation in status dystonicus caused by anti-NMDA receptor encephalitis

artículo científico publicado en 2019

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI

scientific article published on 18 October 2013

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.

artículo científico publicado en 2017

Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

artículo científico publicado en 2012

Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis

artículo científico publicado en 2018

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

artículo científico publicado en 2020

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

artículo científico publicado en 2019

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

artículo científico publicado en 2015

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS

artículo científico publicado en 2020

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

scientific article published on 13 February 2019

Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial

scientific article published on 01 June 2019

Persistent dystonia and basal ganglia involvement following metronidazole induced encephalopathy

scientific article published on 25 October 2019

Pharmacogenetic Study on the Impact of Rivastigmine Concerning Genetic Variants of A2M and IL-6 Genes on Iranian Alzheimer's Patients.

artículo científico publicado en 2015

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review

artículo científico publicado en 2019

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

artículo científico publicado en 2019

The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.

artículo científico publicado en 2018

Lista de obras de

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Alexander Disease.

Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.

Cinnarizine and sodium valproate as the preventive agents of pediatric migraine: A randomized double-blind placebo-controlled trial

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Deep brain stimulation in status dystonicus caused by anti-NMDA receptor encephalitis

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.

Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial

Persistent dystonia and basal ganglia involvement following metronidazole induced encephalopathy

Pharmacogenetic Study on the Impact of Rivastigmine Concerning Genetic Variants of A2M and IL-6 Genes on Iranian Alzheimer's Patients.

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.