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Items: 1 to 50 of 98

1.

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmüller H, Horvath R, Nafissi S.

J Neurol Sci. 2020 Jan 23;411:116707. doi: 10.1016/j.jns.2020.116707. [Epub ahead of print]

PMID:
32007756
2.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C.

Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3.

PMID:
31897643
3.

An overview of motor unit number index reproducibility in amyotrophic lateral sclerosis.

Fathi D, Nafissi S, Attarian S, Neuwirth C, Fatehi F.

Iran J Neurol. 2019 Jul 6;18(3):119-126. Review.

4.

Evaluation of Quality of Life in Patients With Chronic Inflammatory Demyelinating Polyneuropathy in Iran.

Okhovat AA, Gholamalizadeh S, Nafissi S, Fatehi F.

J Clin Neuromuscul Dis. 2019 Dec;21(2):77-83. doi: 10.1097/CND.0000000000000272.

PMID:
31743250
5.

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V.

Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.

PMID:
31610034
6.

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

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

Am J Med Genet A. 2019 Aug;179(8):1507-1515. doi: 10.1002/ajmg.a.61184. Epub 2019 May 20.

PMID:
31111683
7.

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

Khani M, Alavi A, Shamshiri H, Zamani B, Hassanpour H, Kazemi MH, Nafissi S, Elahi E.

Neurobiol Aging. 2019 Mar;75:225.e9-225.e14. doi: 10.1016/j.neurobiolaging.2018.11.003. Epub 2018 Nov 16.

PMID:
30553531
8.

A novel heteroplasmic mutation in mitochondrial tRNAArg gene associated with non-dystrophic myotonias.

Heidari MM, Keshmirshekan A, Bidakhavidi M, Khosravi A, Bandari Z, Khatami M, Nafissi S.

Acta Neurol Belg. 2018 Nov 14. doi: 10.1007/s13760-018-1042-5. [Epub ahead of print]

PMID:
30430429
9.

High Frequency of Tc22 and Th22 Cells in Myasthenia Gravis Patients and Their Significant Reduction after Thymectomy.

Robat-Jazi B, Hosseini M, Shaygannejad V, Nafissi S, Rezaei A, Mansourain M, Mirmosayyeb O, Esmaeil N.

Neuroimmunomodulation. 2018;25(2):80-88. doi: 10.1159/000490855. Epub 2018 Aug 2.

10.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

11.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V.

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19. No abstract available.

12.

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S.

J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212.

PMID:
29794575
13.

Delayed-onset inflammatory polyneuropathy without graft versus host disease after bone marrow transplantation.

Sinaei F, Khodabakhsh A, Alimoghaddam K, Nafissi S.

Muscle Nerve. 2018 Aug;58(2):E11-E13. doi: 10.1002/mus.26118. Epub 2018 Mar 25. No abstract available.

PMID:
29510443
14.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
15.

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
16.

Safety and Efficacy of Nanocurcumin as Add-On Therapy to Riluzole in Patients With Amyotrophic Lateral Sclerosis: A Pilot Randomized Clinical Trial.

Ahmadi M, Agah E, Nafissi S, Jaafari MR, Harirchian MH, Sarraf P, Faghihi-Kashani S, Hosseini SJ, Ghoreishi A, Aghamollaii V, Hosseini M, Tafakhori A.

Neurotherapeutics. 2018 Apr;15(2):430-438. doi: 10.1007/s13311-018-0606-7.

17.

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H.

Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14.

18.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
19.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S.

Arch Iran Med. 2017 Sep;20(9):617-620. doi: 0172009/AIM.0010.

20.

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
21.

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
22.

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.

Muscle Nerve. 2017 Jun;55(6):835-840. doi: 10.1002/mus.25413. Epub 2017 Feb 3.

PMID:
27649523
23.

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients.

Bahreini F, Houshmand M, Modaresi MH, Tonekaboni H, Nafissi S, Nazari F, Akrami SM.

Cell J. 2016 Fall;18(3):405-15. Epub 2016 Aug 24.

24.

Trends of quality of life changes in amyotrophic lateral sclerosis patients.

Shamshiri H, Fatehi F, Abolfazli R, Harirchian MH, Sedighi B, Zamani B, Roudbari A, Razazian N, Khamseh F, Nafissi S.

J Neurol Sci. 2016 Sep 15;368:35-40. doi: 10.1016/j.jns.2016.06.056. Epub 2016 Jun 25.

PMID:
27538598
25.

Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.

Haghshenas M, Akbari MT, Karizi SZ, Deilamani FK, Nafissi S, Salehi Z.

J Genet. 2016 Jun;95(2):325-9.

26.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H.

Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21.

PMID:
27234031
27.

International clinimetric evaluation of the MG-QOL15, resulting in slight revision and subsequent validation of the MG-QOL15r.

Burns TM, Sadjadi R, Utsugisawa K, Gwathmey KG, Joshi A, Jones S, Bril V, Barnett C, Guptill JT, Sanders DB, Hobson-Webb L, Juel VC, Massey J, Gable KL, Silvestri NJ, Wolfe G, Cutter G, Nagane Y, Murai H, Masuda M, Farrugia ME, Carmichael C, Birnbaum S, Hogrel JY, Nafissi S, Fatehi F, Ou C, Liu W, Conaway M.

Muscle Nerve. 2016 Dec;54(6):1015-1022. doi: 10.1002/mus.25198. Epub 2016 Nov 7.

PMID:
27220659
28.

Iranian consensus on use of vitamin D in patients with multiple sclerosis.

Jahromi SR, Sahraian MA, Togha M, Sedighi B, Shayegannejad V, Nickseresht A, Nafissi S, Mohebbi N, Majdinasab N, Foroughipour M, Etemadifar M, Moghadam NB, Ayramlou H, Ashtari F, Alaie S.

BMC Neurol. 2016 May 21;16:76. doi: 10.1186/s12883-016-0586-3. Review.

29.

Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Moghadam A, Arzenani MK, Keramatian F, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E.

Mov Disord. 2016 Jul;31(7):1004-11. doi: 10.1002/mds.26627. Epub 2016 May 2. Review.

PMID:
27134041
30.

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H.

Neuromuscul Disord. 2016 Apr-May;26(4-5):277-82. doi: 10.1016/j.nmd.2016.02.003. Epub 2016 Feb 15.

PMID:
27020652
31.

Effect of Vitamin A Supplementation on fatigue and depression in Multiple Sclerosis patients: A Double-Blind Placebo-Controlled Clinical Trial.

Bitarafan S, Saboor-Yaraghi A, Sahraian MA, Soltani D, Nafissi S, Togha M, Beladi Moghadam N, Roostaei T, Mohammadzadeh Honarvar N, Harirchian MH.

Iran J Allergy Asthma Immunol. 2016 Feb;15(1):13-9.

32.

Personality characteristics in MS patients: The role of avoidant personality.

Mohamadi A, Davoodi-Makinejad M, Azimi A, Nafissi S.

Clin Neurol Neurosurg. 2016 May;144:23-7. doi: 10.1016/j.clineuro.2016.02.035. Epub 2016 Mar 3.

PMID:
26963086
33.

Intraspinal delivery of bone marrow stromal cell-derived neural stem cells in patients with amyotrophic lateral sclerosis: A safety and feasibility study.

Nafissi S, Kazemi H, Tiraihi T, Beladi-Moghadam N, Faghihzadeh S, Faghihzadeh E, Yadegarynia D, Sadeghi M, Chamani-Tabriz L, Khanfakhraei A, Taheri T.

J Neurol Sci. 2016 Mar 15;362:174-81. doi: 10.1016/j.jns.2016.01.051. Epub 2016 Jan 26.

PMID:
26944143
34.

Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

Heidari MM, Khatami M, Nafissi S, Hesami-Zokai F, Khorrami A.

Iran J Neurol. 2015 Oct 7;14(4):190-4.

35.

Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, KaramiNejadRanjbar M, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E.

Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. doi: 10.1016/j.neurobiolaging.2015.10.034. Epub 2015 Nov 6.

PMID:
26675814
36.

Association of HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes with myasthenia gravis and its subgroups in the Iranian population.

Ehsan S, Amirzargar A, Yekaninejad MS, Mahmoudi M, Mehravar S, Moradi B, Nafissi S.

J Neurol Sci. 2015 Dec 15;359(1-2):335-42. doi: 10.1016/j.jns.2015.11.021. Epub 2015 Nov 12.

PMID:
26671138
37.

Dysferlinopathy in Iran: Clinical and genetic report.

Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S.

J Neurol Sci. 2015 Dec 15;359(1-2):256-9. doi: 10.1016/j.jns.2015.11.009. Epub 2015 Nov 11.

PMID:
26671124
38.

Validation of the 15-item myasthenia gravis quality of life questionnaire (MG-QOL15) Persian version.

Ostovan VR, Fatehi F, Davoudi F, Nafissi S.

Muscle Nerve. 2016 Jun;54(1):65-70. doi: 10.1002/mus.25002. Epub 2016 Feb 26.

PMID:
26661455
39.

Blink Reflex May Help Discriminate Alzheimer Disease From Vascular Dementia.

Mohammadian F, Noroozian M, Nafissi S, Fatehi F.

J Clin Neurophysiol. 2015 Dec;32(6):505-11. doi: 10.1097/WNP.0000000000000214.

PMID:
26629759
41.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

MENA Pompe Working Group, Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH.

BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3.

42.

Amyotrophic lateral sclerosis progression: Iran-ALS clinical registry, a multicentre study.

Shamshiri H, Fatehi F, Davoudi F, Mir E, Pourmirza B, Abolfazli R, Etemadifar M, Harirchian MH, Gharagozli K, Ayromlou H, Basiri K, Zamani B, Rohani M, Sedighi B, Roudbari A, Delavar Kasmaei H, Nikkhah K, Ranjbar Naeini A, Nafissi S.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):506-11. doi: 10.3109/21678421.2015.1074698. Epub 2015 Oct 5.

PMID:
26437387
43.

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC.

Am J Med Genet A. 2015 Nov;167A(11):2508-15. doi: 10.1002/ajmg.a.37248. Epub 2015 Jul 20.

PMID:
26192890
44.

Impact of Vitamin A Supplementation on Disease Progression in Patients with Multiple Sclerosis.

Bitarafan S, Saboor-Yaraghi A, Sahraian MA, Nafissi S, Togha M, Beladi Moghadam N, Roostaei T, Siassi F, Eshraghian MR, Ghanaati H, Jafarirad S, Rafiei B, Harirchian MH.

Arch Iran Med. 2015 Jul;18(7):435-40. doi: 0151807/AIM.008.

45.

Genetics of GNE myopathy in the non-Jewish Persian population.

Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R.

Eur J Hum Genet. 2016 Feb;24(2):243-51. doi: 10.1038/ejhg.2015.78. Epub 2015 May 13.

46.

Granulocyte colony-stimulating factor for amyotrophic lateral sclerosis: a randomized, double-blind, placebo-controlled study of Iranian patients.

Amirzagar N, Nafissi S, Tafakhori A, Modabbernia A, Amirzargar A, Ghaffarpour M, Siroos B, Harirchian MH.

J Clin Neurol. 2015 Apr;11(2):164-71. doi: 10.3988/jcn.2015.11.2.164.

47.

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.

48.

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
49.

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H.

Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014.

50.

Effect of repetitive transcranial magnetic stimulation on reducing spasticity in patients suffering from HTLV-1-associated myelopathy.

Amiri M, Nafissi S, Jamal-Omidi S, Amiri M, Fatehi F.

J Clin Neurophysiol. 2014 Dec;31(6):547-51. doi: 10.1097/WNP.0000000000000102.

PMID:
25462141

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