Shamim U - Search Results

1

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Joshi A, Sinha A, Sharma A, Shamim U, Uppilli B, Sharma P, Zahra S, Parveen S, Mathur A, Chandan M, Tewari P, Khandelwal P, Hari P, Mukerji M, Faruq M, Bagga A; NephQuest Consortium. Joshi A, et al. Among authors: shamim u. Indian Pediatr. 2021 May 15;58(5):445-451. Indian Pediatr. 2021. PMID: 33980730 Free article.

2

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.

Juneja M, Shamim U, Joshi A, Mathur A, Uppili B, Sairam S, Ambawat S, Dixit R, Faruq M. Juneja M, et al. Among authors: shamim u. J Gene Med. 2018 Apr;20(4):e3012. doi: 10.1002/jgm.3012. Epub 2018 Mar 23. J Gene Med. 2018. PMID: 29498153

3

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations.

Ramos A, Planchat M, Vieira Melo AR, Raposo M, Shamim U, Suroliya V, Srivastava AK, Faruq M, Morino H, Ohsawa R, Kawakami H, Bannach Jardim L, Saraiva-Pereira ML, Vasconcelos J, Santos C, Lima M. Ramos A, et al. Among authors: shamim u. Eur J Neurol. 2019 Mar;26(3):506-512. doi: 10.1111/ene.13860. Epub 2018 Dec 7. Eur J Neurol. 2019. PMID: 30414314

4

Manganism without Parkinsonism: Isolated Unilateral Upper Limb Tremor in a Welder.

Prasad S, Shamim U, Minj A, Faruq M, Pal PK. Prasad S, et al. Among authors: shamim u. J Mov Disord. 2019 May;12(2):135-137. doi: 10.14802/jmd.18068. Epub 2019 Apr 5. J Mov Disord. 2019. PMID: 30944287 Free PMC article. No abstract available.

5

Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.

Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK. Faruq M, et al. Among authors: shamim u. Clin Genet. 2019 Sep;96(3):271-273. doi: 10.1111/cge.13585. Epub 2019 Jul 8. Clin Genet. 2019. PMID: 31286494 No abstract available.

6

Genomics of rare genetic diseases-experiences from India.

GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.

7

Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.

Goel D, Suroliya V, Shamim U, Mathur A, Faruq M. Goel D, et al. Among authors: shamim u. eNeurologicalSci. 2019 Oct 24;17:100211. doi: 10.1016/j.ensci.2019.100211. eCollection 2019 Dec. eNeurologicalSci. 2019. PMID: 31737797 Free PMC article.

8

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

Shamim U, Ambawat S, Singh J, Thomas A, Pradeep-Chandra-Reddy C, Suroliya V, Uppilli B, Parveen S, Sharma P, Chanchal S, Nashi S, Preethish-Kumar V, Vengalil S, Polavarapu K, Keerthipriya M, Mahajan NP, Reddy N, Thomas PT, Sadasivan A, Warrier M, Seth M, Zahra S, Mathur A, Vibha D, Srivastava AK, Nalini A, Faruq M. Shamim U, et al. Neurobiol Aging. 2020 Apr;88:156.e1-156.e9. doi: 10.1016/j.neurobiolaging.2019.12.024. Epub 2020 Jan 3. Neurobiol Aging. 2020. PMID: 32035847

9

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Panda I, Ahmad I, Sagar S, Zahra S, Shamim U, Sharma S, Faruq M. Panda I, et al. Among authors: shamim u. Clin Genet. 2020 Jun;97(6):933-937. doi: 10.1111/cge.13740. Epub 2020 Mar 24. Clin Genet. 2020. PMID: 32181496

10

An Indian child with Coats plus syndrome due to mutations in STN1.

Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M. Passi GR, et al. Among authors: shamim u. Am J Med Genet A. 2020 Sep;182(9):2139-2144. doi: 10.1002/ajmg.a.61737. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627942

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