List of works - Mahmood Reza Ashrafi

Adverse drug and medical instrument reactions in a pediatric intensive care unit

scientific article published on 01 August 2009

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

scientific article

Association of IL4 single-nucleotide polymorphisms with febrile seizures.

scientific article published on 20 October 2014

Association of IL6 single nucleotide polymorphisms with febrile seizures.

scientific article published on 13 April 2014

Association of TGFB, but not IL10, single nucleotide polymorphisms with febrile seizures.

scientific article published on 11 May 2015

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

scientific article published on 22 December 2017

Bilateral basal ganglia involvement in a patient with Griscelli syndrome.

scientific article

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

scientific article

Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population

scientific article published on 10 March 2020

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

scientific article published on 03 August 2018

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.

scientific article

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

scientific article published on 8 November 2012

Efficacy and safety of cinnarizine in the prophylaxis of migraine headaches in children: an open, randomized comparative trial with propranolol ⬇️

scientific article published on January 24, 2012

Efficacy and safety of intravenous sodium valproate versus phenobarbital in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children: a randomised trial.

scientific article published on 11 February 2012

Efficacy and usability of buccal midazolam in controlling acute prolonged convulsive seizures in children.

scientific article published on 15 June 2010

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

scientific article published on 11 December 2014

Electroretinographic responses in epileptic children treated with vigabatrin

scientific article published on 06 June 2013

Evaluation of Educational Environment for Medical Students of a Tertiary Pediatric Hospital in Tehran, Using DREEM Questionnaire.

scientific article

Executive dysfunction in treated phenylketonuric patients.

scientific article published on 16 February 2009

Extensive Mongolian spots: a clinical sign merits special attention

scientific article published on 01 February 2006

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

article

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

scientific article published on 21 February 2019

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

scientific article published on 11 November 2020

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

scientific article published on 7 July 2017

Late-onset pompe disease in Iran: A clinical and genetic report

scientific article

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

Melatonin versus chloral hydrate for recording sleep EEG.

scientific article published on 18 July 2009

Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A

scientific article published on 07 December 2018

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

scientific article published on 20 June 2019

Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.

scientific article published in September 2006

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

scientific article published on 26 July 2019

SZT2 mutation in a boy with intellectual disability, seizures and autistic features

scientific article published on 22 October 2018

Selenium and intractable epilepsy: is there any correlation?

scientific article published on 01 January 2007

Single nucleotide polymorphisms of TNF-Α gene in febrile seizures.

scientific article

Skull defects, alopecia and distinctive facies: a new syndrome?

scientific article published on 01 July 2008

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

scientific article published in January 2018

The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures.

scientific article published on 20 January 2016

The efficacy of the ketogenic diet in infants and young children with refractory epilepsies using a formula-based powder.

scientific article published on 7 December 2016

The quality of life in boys with Duchenne muscular dystrophy.

scientific article

Vaccine-associated paralytic poliomyelitis in immunodeficient children, Iran, 1995-2008.

scientific article published in July 2010

List of works by Mahmood Reza Ashrafi

Adverse drug and medical instrument reactions in a pediatric intensive care unit

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

Association of IL4 single-nucleotide polymorphisms with febrile seizures.

Association of IL6 single nucleotide polymorphisms with febrile seizures.

Association of TGFB, but not IL10, single nucleotide polymorphisms with febrile seizures.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Bilateral basal ganglia involvement in a patient with Griscelli syndrome.

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

Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population

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

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.

Efficacy and safety of cinnarizine in the prophylaxis of migraine headaches in children: an open, randomized comparative trial with propranolol ⬇️

Efficacy and safety of intravenous sodium valproate versus phenobarbital in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children: a randomised trial.

Efficacy and usability of buccal midazolam in controlling acute prolonged convulsive seizures in children.

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

Electroretinographic responses in epileptic children treated with vigabatrin

Evaluation of Educational Environment for Medical Students of a Tertiary Pediatric Hospital in Tehran, Using DREEM Questionnaire.

Executive dysfunction in treated phenylketonuric patients.

Extensive Mongolian spots: a clinical sign merits special attention

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

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

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

Late-onset pompe disease in Iran: A clinical and genetic report

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

Melatonin versus chloral hydrate for recording sleep EEG.

Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A

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

Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.

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

SZT2 mutation in a boy with intellectual disability, seizures and autistic features

Selenium and intractable epilepsy: is there any correlation?

Single nucleotide polymorphisms of TNF-Α gene in febrile seizures.

Skull defects, alopecia and distinctive facies: a new syndrome?

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

The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures.

The efficacy of the ketogenic diet in infants and young children with refractory epilepsies using a formula-based powder.

The quality of life in boys with Duchenne muscular dystrophy.

Vaccine-associated paralytic poliomyelitis in immunodeficient children, Iran, 1995-2008.