Fatema Al-Salmi

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi et al. · Brain · 2016 · 77 citations · Full text

Genetics, Spastic Paraparesis, Signaling Pathway +18

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro et al. · Brain · 2017 · 72 citations · Full text

Brain Development, Genetics, Molecular Biology +27

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian et al. · Brain · 2022 · 35 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Hatice Koçak Eker, Süleyman Ersin Ünlü, Fatema Al-Salmi et al. · European Journal of Medical Genetics · 2014 · 21 citations

Rare Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +11