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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
Rabia Akram
, Haseeb Anwar
, Humaira Muzaffar
, Valentina Turchetti
, Tracy Lau
, Barbara Vona
, Ehtisham Ul Haq Makhdoom
, Javed Iqbal
,
Shahid Mahmood Baig
, Ghulam Hussain
, Stephanie Efthymiou
, Henry Houlden
Department of Biological & Biomedical Sciences, Medical College, Pakistan
Research output
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Dive into the research topics of 'A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family'. Together they form a unique fingerprint.
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Medicine and Dentistry
Spastic Paraplegia
100%
DeJerine-Sottas Disease
100%
Myelin Associated Glycoprotein
100%
Spasticity
40%
Cognitive Defect
20%
Exome Sequencing
20%
Developmental Delay
20%
Lower Limb
20%
Limb Weakness
20%
Ataxia
20%
Dysarthria
20%
Sanger Sequencing
20%
Exon Skipping
20%
Segregation Analysis
20%
Unsteady Gait
20%
RNA Analysis
20%
Ataxic Gait
20%
Speech Disorder
20%
Start Codon
20%
Eye Movement Disorder
20%
Neuroscience
Paraplegia
100%
Hereditary Spastic Paraplegia
100%
Myelin Associated Glycoprotein
100%
Cognitive Disorders
20%
Dysarthria
20%
Exon Skipping
20%
Exome Sequencing
20%
Ataxia
20%
Eye Movement
20%
Dideoxynucleotide Sequencing
20%
Start Codon
20%
Biochemistry, Genetics and Molecular Biology
Myelin-Associated Glycoprotein
100%
Proband
20%
RNA
20%
Minigene
20%
Isoform
20%
Exome Sequencing
20%
Start Codon
20%
Exon Skipping
20%
Eye Movement
20%
Dideoxynucleotide Sequencing
20%