Muhammad Sher

Dr. Muhammad Sher


Research Focus & Metrics

Academic Career Length

6Years (2021-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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6 July 2023 in Genes
Verified
Journal Article
Open access
PDF file
SSSaadia Saadi
Saadia Saadi
ECElisa Cali
Elisa Cali
LKLubaba Bintee Khalid
Lubaba Bintee Khalid
Hammad YousafHammad Yousaf
Hammad Yousaf
Ghazala ZafarGhazala Zafar
Ghazala Zafar
ZIZafar Iqbal
Zafar Iqbal
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have been investigated using whole exome sequencing. Sanger sequencing was performed for segregation analysis in all the available individuals of each family. The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.1201C>T, BICD2: c.2156A>T, ALS2: c.2171-3T>G, ALS2: c.3145T>A, and B4GALNT1: c.334_335dup, and three already reported pathogenic variants; FA2H: c.159_176del, APTX: c.689T>G, and SETX: c.5308_5311del. The clinical features of all patients in each family are concurrent with the already reported cases. Hence, the current study expands the mutation spectrum of rare spinocerebellar disorders and implies the usefulness of next-generation sequencing in combination with clinical investigation for better diagnosis of these overlapping phenotypes.

1 December 2021 in Journal of Clinical Neuroscience
Verified
Journal Article
Closed access
SZShumaila Zulfiqar
Shumaila Zulfiqar
Muhammad TariqMuhammad Tariq
Muhammad Tariq
SRShafaq Ramzan
Shafaq Ramzan
AKAyaz Khan
Ayaz Khan
MSMuhammad Sher
Muhammad Sher
Shahid Mahmood BaigShahid Mahmood Baig
Shahid Mahmood Baig