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Afagh Alavi

genetics research center

H指数:18

被引数:862

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Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review

DNAJB2基因两个剪接位点变异的表型异质性：来自两个家族和系统综述的见解

Journal of Human Genetics

IF2.5

2026-09-280

PRE

Introducing a novel variant in the FTH1 gene; A closer look at FTH1-related neuroferritinopathy as a neurodegeneration with brain iron accumulation (NBIA) disorder

在FTH1基因中引入一种新型变异；更深入地探讨FTH1相关的神经铁蛋白病作为一种脑铁沉积症（NBIA）疾病

Neurological Sciences

IF2.4

2026-06-220

PRE

A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?

POLR1A基因中的一个新型纯合变异：是复杂的遗传性痉挛性截瘫痷（c-HSP）还是脱髓鞘性脑白质营养不良类型-27（HLD27）表型？

Neurological Sciences

IF2.4

2026-06-110

PRE

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families

扩展遗传性痉挛性截瘫（HSP）的遗传和临床景观：103个家庭的队列研究

Orphanet Journal of Rare Diseases

IF3.5

2026-05-120

OAAI

Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy

扩展LAMA2相关疾病的表型谱：缺乏肌营养不良的轴索神经病

Journal of Human Genetics

IF2.5

2026-03-020

PRE

Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of Whole Exome Sequencing in identifying co-occurrence inherited disorders

伊朗Charcot-Marie-Tooth 2T队列的临床和分子谱，以及全外显子组测序在识别共发生遗传性疾病中的诊断意义

Neuromuscular Disorders

IF2.8

2025-11-110

PRE

GDAP1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?

GDAP1相关Charcot–Marie–Tooth病：轴索型还是脱髓鞘型？常染色体隐性还是常染色体显性遗传？

Journal of the Peripheral Nervous System

IF3.2

2025-07-250

PRE

Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review

对1例具有MTPAP基因新型变异的痉挛性共济失调4型(SPAX4)患者的临床与分子评估，以及系统综述

IF2.4

2025-07-010

PRE

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

MYORG基因的突变谱与原发性家族性脑钙化（PFBC）的伊朗患者的临床特征

the neurological sciences

IF2.4

2025-03-220

PRE

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

ATP13A2相关两大家族中的运动神经元参与：ALS和HSP样表型

MOVEMENT DISORDERS CLINICAL PRACTICE

IF2.7

2025-03-030

OA

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

IF2.1

2025-03-010

PRE

A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism

一种新的遗传变异，表现为年轻发作的快速进行性痴呆和帕金森病

PARKINSONISM & RELATED DISORDERS

IF3.4

2024-10-011

PRE

Identification of let-7f and miR-338 as plasma-based biomarkers for sporadic amyotrophic lateral sclerosis using meta-analysis and empirical validation

SCIENTIFIC REPORTS

IF3.9

2022-01-2621

OAAI

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

IF11.7

2021-09-1316

OAAI

Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bruno, Claudio; Panicucci, Chiara; Alavi, Afagh; Nafissi, Shahriar; Nilipour, Yalda; Zanoteli, Edmar; de Augusto Isihi, Lucas Michielon; Melegh, Bela; Hadzsiev, Kinga; Muelas, Nuria; Vilchez, Juan J.; Dourado, Mario Emilio; Kadem, Naz; Kutluk, Gultekin; Umair, Muhammad; Younus, Muhammad; Pegorano, Elena; Bello, Luca; Crawford, Thomas O.; Suarez-Calvet, Xavier; Topf, Ana; Guglieri, Michela; Marini-Bettolo, Chiara; Gallano, Pia; Straub, Volker; Diaz-Manera, Jordi

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

NEUROBIOLOGY OF AGING

IF3.5

2021-03-017

OAAI

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

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2020-01-0836

OAAI

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

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-04-015

PREAI

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

NEUROBIOLOGY OF AGING

IF3.5

2019-03-017

PREAI

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

NEUROBIOLOGY OF AGING

IF3.5

2017-06-013

PREAI

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

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2016-10-0112

OAAI