Articles with public access mandates - Ali Reza Tavasoli, MDLearn more
Not available anywhere: 5
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum
E Heidari, AN Harrison, E Jafarinia, AR Tavasoli, N Almadani, RS Molday, ...
Human Mutation 42 (5), 491-497, 2021
Mandates: Canadian Institutes of Health Research
Leukoencephalopathy in RIN2 syndrome: novel mutation and expansion of clinical spectrum
R Kameli, MR Ashrafi, F Ehya, H Alizadeh, S Hosseinpour, M Garshasbi, ...
European Journal of Medical Genetics 63 (1), 103629, 2020
Mandates: US National Institutes of Health
Genetic analysis of forty MLPA-negative Duchenne muscular dystrophy patients by whole-exome sequencing
GR Zamani, MF Mohammadi, AR Tavasoli, MR Ashrafi, S Hosseinpour, ...
Journal of Molecular Neuroscience 72 (5), 1098-1107, 2022
Mandates: UK Medical Research Council
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
M Ashrafi, R Kameli, S Hosseinpour, E Razmara, Z Zamani, Z Rezaei, ...
neurogenetics 24 (4), 279-289, 2023
Mandates: UK Medical Research Council
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance
B Tasharrofi, A Najafi, E Pourbakhtyaran, S Amirsalari, GS Khan, ...
Molecular Biology Reports 51 (1), 714, 2024
Mandates: UK Medical Research Council
Available somewhere: 15
Epilepsia partialis continua a clinical feature of a missense variant in the ADCK3 gene and poor response to therapy
MR Ashrafi, R Haghighi, RS Badv, H Ghabeli, AR Tavasoli, ...
Journal of Molecular Neuroscience 72 (5), 1125-1132, 2022
Mandates: UK Medical Research Council
Recalcitrant cutaneous warts in a family with inherited ICOS deficiency
L Youssefian, AH Saeidian, AR Tavasoli, E Kalamati, K Naghipoor, ...
Journal of Investigative Dermatology 142 (9), 2435-2445, 2022
Mandates: US National Institutes of Health
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis
N Mahdieh, S Mikaeeli, AR Tavasoli, Z Rezaei, M Maleki, B Rabbani
Clinical Neurology and Neurosurgery 167, 43-53, 2018
Mandates: US National Institutes of Health
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24. 3–p25. 3
A Kariminejad, S Nafissi, Y Nilipoor, A Tavasoli, PP Van Veldhoven, ...
American Journal of Medical Genetics Part A 167 (11), 2508-2515, 2015
Mandates: A*Star, Singapore
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
H Vahidnezhad, L Youssefian, N Harvey, AR Tavasoli, AH Saeidian, ...
Human mutation 43 (12), 1706-1731, 2022
Mandates: US National Institutes of Health
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity
N Mahdieh, A Sharifi, A Rabbani, M Ashrafi, AR Tavasoli, RS Badv, ...
Clinical Neurology and Neurosurgery 201, 106448, 2021
Mandates: US National Institutes of Health
Clinical and molecular findings of autosomal recessive spastic ataxia of Charlevoix Saguenay: an Iranian case series expanding the genetic and neuroimaging spectra
MR Ashrafi, P Mohammadi, AR Tavasoli, M Heidari, S Hosseinpour, ...
The Cerebellum 22 (4), 640-650, 2023
Mandates: German Research Foundation, UK Medical Research Council
Expanding the genetic spectrum of giant axonal neuropathy: two novel variants in Iranian families
MR Ashrafi, AZ Dehnavi, AR Tavasoli, M Heidari, M Ghahvechi Akbari, ...
Molecular Genetics & Genomic Medicine 11 (6), e2159, 2023
Mandates: UK Medical Research Council
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
AZ Dehnavi, M Bemanalizadeh, SM Kahani, MR Ashrafi, M Rohani, ...
Orphanet journal of rare diseases 18 (1), 177, 2023
Mandates: UK Medical Research Council
Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study
MR Ashrafi, E Pourbakhtyaran, M Rohani, B Shalbafan, AR Tavasoli, ...
Clinical Case Reports 10 (4), e05777, 2022
Mandates: UK Medical Research Council
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature
MF Mohammadi, A Dehghani, K Zarabadi, SM Kahani, S Sayyad, ...
Irish Journal of Medical Science (1971-) 193 (1), 449-456, 2024
Mandates: UK Medical Research Council
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT
SA Afjei, MF Mohammadi, E Pourbakhtyaran, H Ghabeli, MR Ashrafi, ...
neurogenetics 24 (2), 67-78, 2023
Mandates: UK Medical Research Council
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
S Hosseinpour, E Razmara, M Heidari, Z Rezaei, MR Ashrafi, AZ Dehnavi, ...
Brain and Development 46 (4), 167-179, 2024
Mandates: UK Medical Research Council
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
M Khodaeian, F Bitarafan, F Garrousi, EA Sardehie, N Pak, ...
Journal of Clinical Laboratory Analysis 37 (21-22), e24983, 2023
Mandates: UK Medical Research Council
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder
F Paul, C Ng, UB Mohamad Sahari, S Nafissi, Y Nilipoor, AR Tavasoli, ...
Human Molecular Genetics 31 (21), 3729-3740, 2022
Mandates: European Molecular Biology Laboratory, A*Star, Singapore, National Medical …
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