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Nuzhat Noureen Rana
Observed names:
Nuzhat N. Rana,
Nuzhat Rana
Observed institutions:
Medical University of South Carolina,
UCL Queen Square Institute of Neurology,
University College London
ORCID:
0000-0003-0242-2752
Observed ORCID:
0000-0003-0242-2752
OpenAlex ID:
A5036237484
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019
·
Vincenzo Salpietro
, Christine L. Dixon
, et al.
·
Nature Communications
·
257
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020
·
Lucia V. Schottlaender
, Rosella Abeti
, et al.
·
The American Journal of Human Genetics
·
88
PDF
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
·
Stephanie Efthymiou
, Vincenzo Salpietro
, et al.
·
Brain
·
86
PDF
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
2019
·
Elena Perenthaler
, Anita Nikoncuk
, et al.
·
Acta Neuropathologica
·
67
PDF
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
2020
·
Andreea Manole
, Stephanie Efthymiou
, et al.
·
The American Journal of Human Genetics
·
64
PDF
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020
·
Caroline Neuray
, Reza Maroofian
, et al.
·
Brain
·
56
PDF
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
2019
·
Laura V. Vandervore
, Rachel Schot
, et al.
·
The American Journal of Human Genetics
·
47
PDF
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022
·
Elisa Calì
, Sheng-Jia Lin
, et al.
·
Genetics in Medicine
·
17
PDF
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
2024
·
Lucia Laugwitz
, Fubo Cheng
, et al.
·
Brain
·
12
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
2020
·
Pasquelena De Nittis
, Stephanie Efthymiou
, et al.
·
Journal of Medical Genetics
·
12
PDF
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
2023
·
Aliaksandr Skrahin
, Huma Arshad Cheema
, et al.
·
Life Science Alliance
·
11
PDF
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023
·
Vincenzo Salpietro
, Reza Maroofian
, et al.
·
The American Journal of Human Genetics
·
9
PDF
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024
·
Elisa Cali
, Tania Quirin
, et al.
·
Genetics in Medicine
·
5
PDF
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
2024
·
Stephanie Efthymiou
, Wenyan Han
, et al.
·
Frontiers in Molecular Neuroscience
·
5
PDF
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range
2022
·
Kamran Salayev
, Clarissa Rocca
, et al.
·
European Journal of Medical Genetics
·
2
PDF
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
2026
·
Stephanie Efthymiou
, Keisuke Tabata
, et al.
·
medRxiv
PDF
Novel Bi-Allelic LGI3 Variants and Intellectual Developmental Disorder: Clinical and Genetic Insights from Four New Families
2025
·
Murtadha Ali
, Mustafa, Muhammad
, et al.
Novel Genetic Cause for Neurodevelopmental Defects
2019
·
Grazia M.S. Mancini
, Mohammad Doosti
, et al.
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Works count:
18
Citation count:
738
H-index:
11
I10-index:
11
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