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Scopus Author ID: 19639734300

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Iran

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Employment (1)

University of Social Welfare and Rehabilitation Science: Tehran, Tehran, IR

Associate Prof. (Genetics Research Center)
Employment
Source: Self-asserted source
Afagh Alavi

Education and qualifications (1)

University of Tehran: Tehran, Tehran, IR

PhD (Cellular and Molecular Biology)
Education
Source: Self-asserted source
Afagh Alavi

Works (50 of 60)

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Page 1 of 2

Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review

Pediatric Neurology
2025-03 | Journal article
DOI: 10.1016/j.pediatrneurol.2024.12.011
Contributors: Mahsa Mohammadi; Moez Ravanbod; Aida Ghasemi; Hadi Gharebaghian; Shahriar Nafissi; Afagh Alavi
Source: check_circle
Crossref

Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC)

Neurological Sciences
2025-03-22 | Journal article
DOI: 10.1007/s10072-025-08105-x
Contributors: Parsa Soleimani; Mana Khojasteh; Aida Ghasemi; Ali Heshmati; Mohammad Rohani; Afagh Alavi
Source: check_circle
Crossref

Motor Neuron Involvement in Two ATP13A2‐Related Families: ALS And HSP‐Like Phenotypes

Movement Disorders Clinical Practice
2025-03-03 | Journal article
DOI: 10.1002/mdc3.70027
Contributors: Sepehr Khosravi; Elaheh Amini; Maziar Emamikhah; Afagh Alavi; Anthony E. Lang; Mohammad Rohani
Source: check_circle
Crossref

A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
2025-01 | Journal article
DOI: 10.1017/cjn.2024.47
Contributors: Aida Ghasemi; Mahdieh Eslami Ardakani; Mansoureh Togha; Narges Yazdi; Anthony E. Lang; Elahe Amini; Mohammad Rohani; Afagh Alavi
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Crossref

JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation

Neurological Sciences
2024-08 | Journal article
DOI: 10.1007/s10072-024-07419-6
Contributors: Mana Khojasteh; Parsa Soleimani; Aida Ghasemi; Peyman Taghizadeh; Mohammad Rohani; Afagh Alavi
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Crossref

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders

Movement Disorders Clinical Practice
2024-01 | Journal article
DOI: 10.1002/mdc3.13933
Contributors: Elahe Amini; Mohammad Rohani; Anthony E. Lang; Zahra Azad; Seyed Amir Hassan Habibi; Afagh Alavi; Gholamali Shahidi; Maziar Emamikhah; Ahmad Chitsaz
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Crossref

A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population

Neurological Sciences
2023-07 | Journal article
DOI: 10.1007/s10072-023-06707-x
Contributors: Zahra Sadr; Davood Zare-Abdollahi; Mohammad Rohani; Afagh Alavi
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Crossref

Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures

Epilepsia Open
2023-06 | Journal article
DOI: 10.1002/epi4.12716
Contributors: Ali A. Asadi‐Pooya; Leila Simani; Marjan Asadollahi; Fatemeh Sadat Rashidi; Ehsan Ahmadipour; Afagh Alavi; Mehrdad Roozbeh; Nayyereh Akbari; Negar Firouzabadi
Source: check_circle
Crossref

NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants

Neuromuscular Disorders
2023-04 | Journal article
DOI: 10.1016/j.nmd.2023.02.001
Contributors: Zahra Sadr; Aida Ghasemi; Mohammad Rohani; Afagh Alavi
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Crossref

The second family affected with a PRDM8-related disease

Neurological Sciences
2022-06 | Journal article
DOI: 10.1007/s10072-021-05815-w
Contributors: Atefeh Davarzani; Amin Shahrokhi; Seyyed Saleh Hashemi; Aida Ghasemi; Mohammad Reza Habibi Kavashkohei; Niloofar Farboodi; Anthony E. Lang; Maryam Ghiasi; Mohammad Rohani; Afagh Alavi
Source: check_circle
Crossref

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
2022-05 | Journal article
DOI: 10.1017/cjn.2021.124
Contributors: Reza Hajati; Maziar Emamikhah; Fardad Danaee Fard; Mohammad Rohani; Afagh Alavi
Source: check_circle
Crossref

Study on SARS-CoV-2 strains in Iran reveals potential contribution of co-infection with and recombination between different strains to the emergence of new strains

Virology
2021-10 | Journal article
DOI: 10.1016/j.virol.2021.06.004
Contributors: Peyman Taghizadeh; Sadegh Salehi; Ali Heshmati; Seyed Massoud Houshmand; Kolsoum InanlooRahatloo; Forouzandeh Mahjoubi; Mohammad Hossein Sanati; Hadi Yari; Afagh Alavi; Saeid Amel Jamehdar et al.
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Crossref

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Brain : a journal of neurology
2021-09-13 | Journal article
DOI: 10.1093/brain/awab301
PMID: 34515763
Source: Self-asserted source
Afagh Alavi

Anticipation Can Be More Common in Hereditary Spastic Paraplegia with <i>SPAST</i> Mutations Than It Appears.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2021-08-06 | Journal article
DOI: 10.1017/cjn.2021.188
PMID: 34353391
Source: Self-asserted source
Afagh Alavi

Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome.

Movement disorders clinical practice
2021-05-25 | Journal article
DOI: 10.1002/mdc3.13251
PMID: 34405102
Source: Self-asserted source
Afagh Alavi

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families

Journal of Neurogenetics
2021-04-03 | Journal article
DOI: 10.1080/01677063.2021.1895146
Contributors: Mahdieh Pashaei; Atefeh Davarzani; Reza Hajati; Babak Zamani; Shahriar Nafissi; Farzaneh Larti; Yalda Nilipour; Mohammad Rohani; Afagh Alavi
Source: check_circle
Crossref

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

Neuromuscular disorders : NMD
2021-03-08 | Journal article
DOI: 10.1016/j.nmd.2021.03.003
PMID: 33824075
Source: Self-asserted source
Afagh Alavi

Clinical spectrum in multiple families with primary COQ10 deficiency

American Journal of Medical Genetics Part A
2021-02 | Journal article
DOI: 10.1002/ajmg.a.61983
Contributors: Seyyed S. Hashemi; Davood Zare‐Abdollahi; Mohammad K. Bakhshandeh; Amirreza Vafaee; Sona Abolhasani; Kolsoum Inanloo Rahatloo; Fardad DanaeeFard; Niloofar Farboodi; Mohammad Rohani; Afagh Alavi
Source: check_circle
Crossref

Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases

Current Journal of Neurology
2021-02-24 | Journal article
DOI: 10.18502/cjn.v19i4.5548
Part of ISSN: 2717-011X
Source: Self-asserted source
Afagh Alavi

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation

2020 | Journal article
Source: Self-asserted source
Afagh Alavi

A mutation in <i>DOP1B</i> identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.

Molecular vision
2020-11-25 | Journal article
PMID: 33273802
PMC: PMC7700884
Source: Self-asserted source
Afagh Alavi

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Neurobiology of aging
2020-10-05 | Journal article
DOI: 10.1016/j.neurobiolaging.2020.09.021
PMID: 33189404
Source: Self-asserted source
Afagh Alavi

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.

Journal of neurology
2020-09-08 | Journal article
DOI: 10.1007/s00415-020-10171-4
PMID: 32897397
Source: Self-asserted source
Afagh Alavi

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration
2020-08-10 | Journal article
DOI: 10.1080/21678421.2020.1803359
PMID: 32777948
Source: Self-asserted source
Afagh Alavi

Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.

Gene
2020-07-01 | Journal article
DOI: 10.1016/j.gene.2020.144918
PMID: 32621952
Source: Self-asserted source
Afagh Alavi
grade
Preferred source (of 3)‎

Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.

Movement disorders clinical practice
2020-06-24 | Journal article
DOI: 10.1002/mdc3.12990
PMID: 32775522
Source: Self-asserted source
Afagh Alavi

CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.

The International journal of neuroscience
2020-05-13 | Journal article
DOI: 10.1080/00207454.2020.1763344
PMID: 32352326
Source: Self-asserted source
Afagh Alavi

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Molecular genetics & genomic medicine
2020-05-08 | Journal article
DOI: 10.1002/mgg3.1240
PMID: 32383541
PMC: PMC7336765
Source: Self-asserted source
Afagh Alavi
grade
Preferred source (of 2)‎

Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.

Molecular genetics and genomics : MGG
2020-04-06 | Journal article
DOI: 10.1007/s00438-020-01663-z
PMID: 32253496
Source: Self-asserted source
Afagh Alavi

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.

Molecular syndromology
2020-03-11 | Journal article
DOI: 10.1159/000506530
PMID: 32655337
Source: Self-asserted source
Afagh Alavi

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.

Journal of assisted reproduction and genetics
2020-01-08 | Journal article
DOI: 10.1007/s10815-019-01660-1
PMID: 31916078
PMC: PMC7056785
Source: Self-asserted source
Afagh Alavi

Late-Onset Mitochondrial Membrane Protein-Associated Neurodegeneration With Extensive Brain Iron Deposition.

Movement disorders clinical practice
2019-11-30 | Journal article
DOI: 10.1002/mdc3.12868
PMID: 31970231
PMC: PMC6962686
Source: Self-asserted source
Afagh Alavi

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

American journal of medical genetics. Part A
2019-05-20 | Journal article
DOI: 10.1002/ajmg.a.61184
PMID: 31111683
Source: Self-asserted source
Afagh Alavi

MFSD8 gene mutations; evidence for phenotypic heterogeneity.

Ophthalmic genetics
2019-04-22 | Journal article
DOI: 10.1080/13816810.2019.1592200
PMID: 31006324
Source: Self-asserted source
Afagh Alavi

Identification of PROS1 as a Novel Candidate Gene for Juvenile Retinitis Pigmentosa.

International journal of molecular and cellular medicine
2019-01-01 | Journal article
DOI: 10.22088/ijmcm.bums.8.3.179
PMID: 32489947
PMC: PMC7241841
Source: Self-asserted source
Afagh Alavi

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.

BMC neurology
2018-11-29 | Journal article
DOI: 10.1186/s12883-018-1201-6
PMID: 30497409
PMC: PMC6262971
Source: Self-asserted source
Afagh Alavi

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Cell journal
2018-11-18 | Journal article
DOI: 10.22074/cellj.2019.5734
PMID: 30507091
PMC: PMC6275424
Source: Self-asserted source
Afagh Alavi

Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.

Neurobiology of aging
2018-11-16 | Journal article
DOI: 10.1016/j.neurobiolaging.2018.11.003
PMID: 30553531
Source: Self-asserted source
Afagh Alavi
grade
Preferred source (of 2)‎

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

Parkinsonism & related disorders
2018-11-13 | Journal article
DOI: 10.1016/j.parkreldis.2018.11.012
PMID: 30455156
Source: Self-asserted source
Afagh Alavi
grade
Preferred source (of 2)‎

Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature

Neurological Sciences
2018-10-21 | Journal article
DOI: 10.1007/s10072-018-3472-5
Contributors: Mohammad Rohani; Alfonso Fasano; Anthony E. Lang; Babak Zamani; Leila Javanparast; Mohammad-Masoud Rahimi Bidgoli; Afagh Alavi
Source: check_circle
Crossref

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.

Gene
2018-03-15 | Journal article
DOI: 10.1016/j.gene.2018.03.044
PMID: 29551499
Source: Self-asserted source
Afagh Alavi
grade
Preferred source (of 2)‎

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.

2018-01 | Journal article
Source: Self-asserted source
Afagh Alavi

Action myoclonus and seizure in Kufor‐Rakeb syndrome

Movement Disorders Clinical Practice
2017-12-28 | Journal article
Source: Self-asserted source
Afagh Alavi

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

J Neurogenet.
2017-09 | Journal article
Source: Self-asserted source
Afagh Alavi

Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration

Movement Disorders Clinical Practice
2017-06-30 | Journal article
Source: Self-asserted source
Afagh Alavi

Mutations in C19orf12 and intronic repeat expansions in C9orf72 not observed in Iranian Parkinson's disease patients.

Neurobiology of aging
2017-03-18 | Journal article
DOI: 10.1016/j.neurobiolaging.2017.03.020
PMID: 28365006
Source: Self-asserted source
Afagh Alavi

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.

Journal of the neurological sciences
2016-08-17 | Journal article
DOI: 10.1016/j.jns.2016.08.035
PMID: 27653917
Source: Self-asserted source
Afagh Alavi

HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry

2015 | Journal article
DOI:

10.1016/j.neurobiolaging.2014.11.021

EID:

2-s2.0-84923399966
Contributors: Alavi, A.; Shamshiri, H.; Nafissi, S.; Khani, M.; Klotzle, B.; Fan, J.-B.; Steemers, F.; Elahi, E.
Source: Self-asserted source
Afagh Alavi via Scopus - Elsevier

Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.

Iranian journal of neurology
2015-07-01 | Journal article
PMID: 26622980
PMC: PMC4662688
Source: Self-asserted source
Afagh Alavi

An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: A genetic and clinical report

2014 | Journal article
EID:

2-s2.0-84908212326
Contributors: Alavi, A.; Khani, M.; Nafissi, S.; Shamshiri, H.; Elahi, E.
Source: Self-asserted source
Afagh Alavi via Scopus - Elsevier
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Peer review (3 reviews for 2 publications/grants)

Review activity for Neurological sciences. (2)
Review activity for Seizure (1)
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