Artikel dengan mandat akses publik - Mahmoudreza AshrafiPelajari lebih lanjut
Tidak tersedia di mana pun: 7
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy
P Mohammadi, M Heidari, MR Ashrafi, N Mahdieh, M Garshasbi
Acta Neurologica Belgica 122 (5), 1201-1210, 2022
Mandat: US National Institutes of Health
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
Mandat: US National Institutes of Health
An overview of early-onset cerebellar ataxia: a practical guideline
S Hosseinpour, M Bemanalizadeh, P Mohammadi, MR Ashrafi, M Heidari
Acta Neurologica Belgica 124 (6), 1791-1804, 2024
Mandat: 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
Mandat: UK Medical Research Council
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
Mandat: 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
Mandat: UK Medical Research Council
Death Causes Among Iranian Children With Leukodystrophies
M Shiva, S Hosseinpour, MR Ashrafi, M Heidari, Z Rezaei, J Zebardast, ...
Journal of Child Neurology, 08830738241293171, 2024
Mandat: UK Medical Research Council
Tersedia di suatu tempat: 13
The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias
A Traschütz, S Reich, AD Adarmes, M Anheim, MR Ashrafi, J Baets, ...
Frontiers in neurology 12, 677551, 2021
Mandat: US National Institutes of Health, Research Foundation (Flanders), German …
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular …
R Maroofian, M Riemersma, LT Jae, N Zhianabed, MH Willemsen, ...
Genome medicine 9, 1-11, 2017
Mandat: Netherlands Organisation for Scientific Research, Netherlands Organisation …
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
Mandat: UK Medical Research Council
Identification of a novel missense c. 386G> A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy
P Mohammadi, MA Daneshmand, N Mahdieh, MR Ashrafi, M Heidari, ...
Acta Neurologica Belgica 121 (1), 143-151, 2021
Mandat: 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
Mandat: 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
Mandat: 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
Mandat: 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
Mandat: 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
Mandat: 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
Mandat: 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
Mandat: UK Medical Research Council
Non-invasive Electrical Source Imaging for Localizing Epileptiform Discharges in Children with Focal Epilepsy Based on Developing Country’s Limitations
SA Irandoost, RS Badv, MA Oghabian, B Yarali, RA Malamiri, H Hashemi, ...
Iranian Journal of Pediatrics 33 (2), 2023
Mandat: 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
Mandat: UK Medical Research Council
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