Faruq M - Search Results

1

Respiratory Co-Infections: Modulators of SARS-CoV-2 Patients' Clinical Sub-Phenotype.

Mehta P, Sahni S, Siddiqui S, Mishra N, Sharma P, Sharma S, Tyagi A, Chattopadhyay P, Vivekanand A, Devi P, Khan A, Waghdhare S, Budhiraja S, Uppili B, Maurya R, Nangia V, Shamim U, Hazarika PP, Wadhwa S, Tyagi N, Dewan A, Tarai B, Das P, Faruq M, Agrawal A, Jha S, Pandey R. Mehta P, et al. Among authors: faruq m. Front Microbiol. 2021 May 28;12:653399. doi: 10.3389/fmicb.2021.653399. eCollection 2021. Front Microbiol. 2021. PMID: 34122366 Free PMC 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: faruq m. J Gene Med. 2018 Apr;20(4):e3012. doi: 10.1002/jgm.3012. Epub 2018 Mar 23. J Gene Med. 2018. PMID: 29498153

3

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.

Singh J, Muhammad PK, Jain S, Mathur A, Parveen S, Joshi A, Uppili B, Shaji CV, Kabeer KA, Menon S, Faruq M. Singh J, et al. Among authors: faruq m. Mol Genet Metab Rep. 2018 Apr 18;15:124-126. doi: 10.1016/j.ymgmr.2018.04.003. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023302 Free PMC article.

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: faruq m. 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. 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

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Kalikavil Puthanveedu D, Cherian A, Mukerji M, Srivastava AK, Faruq M. Shakya S, et al. Among authors: faruq m. Clin Genet. 2019 Dec;96(6):566-574. doi: 10.1111/cge.13625. Epub 2019 Sep 1. Clin Genet. 2019. PMID: 31429931

7

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.

8

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: faruq m. eNeurologicalSci. 2019 Oct 24;17:100211. doi: 10.1016/j.ensci.2019.100211. eCollection 2019 Dec. eNeurologicalSci. 2019. PMID: 31737797 Free PMC article.

9

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. Among authors: faruq m. 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

10

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: faruq m. Clin Genet. 2020 Jun;97(6):933-937. doi: 10.1111/cge.13740. Epub 2020 Mar 24. Clin Genet. 2020. PMID: 32181496

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