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Items: 1 to 20 of 22

1.

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

Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F.

Cell J. 2019 Apr;21(1):70-77. doi: 10.22074/cellj.2019.5734. Epub 2018 Nov 18.

PMID:
30507091
2.

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

Rahmani B, Fekrmandi F, Ahadi K, Ahadi T, Alavi A, Ahmadiani A, Asadi S.

BMC Neurol. 2018 Nov 29;18(1):195. doi: 10.1186/s12883-018-1201-6.

3.

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

Rohani M, Fasano A, Akhoundi FH, Haeri G, Lang AE, Rahimi Bidgoli MM, Javanparast L, Zamani B, Shahidi G, Alavi A.

Parkinsonism Relat Disord. 2018 Nov 13. pii: S1353-8020(18)30496-6. doi: 10.1016/j.parkreldis.2018.11.012. [Epub ahead of print] No abstract available.

PMID:
30455156
4.

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

Rohani M, Fasano A, Lang AE, Zamani B, Javanparast L, Bidgoli MR, Alavi A.

Neurol Sci. 2018 Jun 21. doi: 10.1007/s10072-018-3472-5. [Epub ahead of print] No abstract available.

PMID:
29926305
5.

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

Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F.

Gene. 2018 Jun 15;659:160-167. doi: 10.1016/j.gene.2018.03.044. Epub 2018 Mar 15.

PMID:
29551499
6.

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

Alavi A, Esmaeili S, Nafissi S, Kahrizi K, Najmabadi H.

Neuromuscul Disord. 2018 Apr;28(4):303-314. doi: 10.1016/j.nmd.2018.01.001. Epub 2018 Jan 12.

PMID:
29402602
7.

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

Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F.

J Neurogenet. 2017 Sep;31(3):161-169. doi: 10.1080/01677063.2017.1346093. Epub 2017 Jul 7.

PMID:
28687063
8.

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

Alavi A, Malakouti Nejad M, Shahidi G, Elahi E.

Neurobiol Aging. 2017 Jun;54:214.e11-214.e12. doi: 10.1016/j.neurobiolaging.2017.03.020. Epub 2017 Mar 18.

PMID:
28365006
9.

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

Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E.

J Neurol Sci. 2016 Oct 15;369:318-323. doi: 10.1016/j.jns.2016.08.035. Epub 2016 Aug 17.

PMID:
27653917
11.

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

Alavi A, Khani M, Nafissi S, Shamshiri H, Elahi E.

Iran J Basic Med Sci. 2014 Oct;17(10):735-9.

12.

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

Alavi A, Shamshiri H, Nafissi S, Khani M, Klotzle B, Fan JB, Steemers F, Elahi E.

Neurobiol Aging. 2015 Mar;36(3):1606.e1-7. doi: 10.1016/j.neurobiolaging.2014.11.021. Epub 2014 Dec 16.

PMID:
25725944
13.

Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients.

Alavi A, Nafissi S, Rohani M, Shahidi G, Zamani B, Shamshiri H, Safari I, Elahi E.

Neurobiol Aging. 2014 Jan;35(1):267.e1-7. doi: 10.1016/j.neurobiolaging.2013.07.016. Epub 2013 Aug 17.

PMID:
23962495
14.

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):139-44. doi: 10.1016/j.ymgme.2013.05.019. Epub 2013 Jun 6.

PMID:
23791309
15.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
16.

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

Alavi A, Nafissi S, Rohani M, Zamani B, Sedighi B, Shamshiri H, Fan JB, Ronaghi M, Elahi E.

Neurobiol Aging. 2013 May;34(5):1516.e1-8. doi: 10.1016/j.neurobiolaging.2012.09.006. Epub 2012 Oct 9.

PMID:
23062701
17.

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.

Dezfouli MA, Jaberi E, Alavi A, Rezvani M, Shahidi G, Elahi E, Rohani M.

Iran J Neurol. 2012;11(4):155-8.

18.

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.

Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E.

J Dermatol. 2012 Apr;39(4):375-81. doi: 10.1111/j.1346-8138.2011.01412.x. Epub 2011 Nov 21.

PMID:
22098531
19.

Contributions of MYOC and CYP1B1 mutations to JOAG.

Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F, Narooie-Nejhad M, Sanati MH, Elahi E.

Mol Vis. 2008 Mar 13;14:508-17.

20.

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.

Alavi A, Elahi E, Rahmati-Kamel M, Karimian F, Rezaei-Kanavi M.

Clin Exp Ophthalmol. 2008 Jan-Feb;36(1):26-30. doi: 10.1111/j.1442-9071.2007.01649.x.

PMID:
18290950

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