Ashrafi MR - Search Results

1

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

Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H. Maroofian R, et al. Among authors: ashrafi mr. Genome Med. 2017 Dec 22;9(1):118. doi: 10.1186/s13073-017-0505-2. Genome Med. 2017. PMID: 29273094 Free PMC article.

2

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

Kariminejad A, Yazdan H, Rahimian E, Kalhor Z, Fattahi Z, Zonooz MF, Najmabadi H, Ashrafi M. Kariminejad A, et al. Eur J Med Genet. 2019 Sep;62(9):103556. doi: 10.1016/j.ejmg.2018.10.008. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359774

3

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Masoudi M, Bereshneh AH, Rasoulinezhad M, Ashrafi MR, Garshasbi M, Tavasoli AR. Masoudi M, et al. Among authors: ashrafi mr. Am J Med Genet A. 2020 Oct;182(10):2391-2398. doi: 10.1002/ajmg.a.61776. Epub 2020 Aug 7. Am J Med Genet A. 2020. PMID: 32770650

4

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.

Aryan H, Zokaei S, Farhud D, Keykhaei M, Ashrafi MR, Rasulinezhad M, Hosseini SMM, Razmara E, Tavasoli AR. Aryan H, et al. Among authors: ashrafi mr. Ir J Med Sci. 2022 Dec;191(6):2733-2741. doi: 10.1007/s11845-021-02890-y. Epub 2022 Jan 15. Ir J Med Sci. 2022. PMID: 35031939

5

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Dehnavi AZ, et al. Among authors: ashrafi mr. Orphanet J Rare Dis. 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. Orphanet J Rare Dis. 2023. PMID: 37403138 Free PMC article.

6

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

Tasharrofi B, Najafi A, Pourbakhtyaran E, Amirsalari S, Khan GS, Ashrafi MR, Tavasoli AR, Keramatipour M, Heidari M. Tasharrofi B, et al. Among authors: ashrafi mr. Mol Biol Rep. 2024 Jun 1;51(1):714. doi: 10.1007/s11033-024-09560-z. Mol Biol Rep. 2024. PMID: 38824264

7

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Savad S, Modarressi MH, Younesi S, Seifi-Alan M, Samadaian N, Masoomy M, Dianatpour M, Norouzi S, Amidi S, Boroumand A, Ashrafi MR, Ronagh A, Eslami M, Hashemnejad M, Nourian S, Mohammadi S, Taheri Amin MM, Heidari M, Seifi-Alan M, Shojaaldini Ardakani H, Aghamahdi F, Khalilian S, Ghafouri-Fard S. Savad S, et al. Among authors: ashrafi mr. Neuromolecular Med. 2024 Jul 2;26(1):28. doi: 10.1007/s12017-024-08790-5. Neuromolecular Med. 2024. PMID: 38954284

8

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

Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN. Ehmke N, et al. Among authors: ashrafi mr. Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20. Am J Med Genet A. 2014. PMID: 25331754 Review.

9

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

Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, Aryani O, Nafissi S. Nazari F, et al. Among authors: ashrafi mr. Muscle Nerve. 2017 Jun;55(6):835-840. doi: 10.1002/mus.25413. Epub 2017 Feb 3. Muscle Nerve. 2017. PMID: 27649523

10

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

Mohammadi P, Daneshmand MA, Mahdieh N, Ashrafi MR, Heidari M, Garshasbi M. Mohammadi P, et al. Among authors: ashrafi mr. Acta Neurol Belg. 2021 Feb;121(1):143-151. doi: 10.1007/s13760-020-01527-8. Epub 2020 Nov 11. Acta Neurol Belg. 2021. PMID: 33175337

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