Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes
Javeria Raza Alvi, Areeba Wasim, Saher Gul Ahdi, Tipu Sultan et autres
0 citationsFrontiers in Neurology
Javeria Raza Alvi
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15Publications signalées
75Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Mitochondrial Function and PathologyGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersRNA regulation and diseaseEpilepsy research and treatment
Publications récentes
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, H. J. Kim, Gyubin Jang, Maha S. Zaki et autres
0 citationsmedRxiv
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
5 citationsmedRxiv
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia
Reza Maroofian, Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi et autres
1 citationMovement Disorders
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann et autres
3 citationsMovement Disorders
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
Yoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi et autres
3 citationsBrain
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão et autres
13 citationsmedRxiv
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
Rebecca Buchert, Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan et autres
6 citationsThe American Journal of Human Genetics
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Rauan Kaiyrzhanov, Kyle Thompson, Stéphanie Efthymiou, Askhat Mukushev et autres
3 citationsBrain Communications
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Carolyn Le, Emanuela Argilli, Elizabeth George, Tuğba Kalaycı et autres
2 citationsmedRxiv
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Y. Nakamura, Issei S. Shimada, Reza Maroofian, Micol Falabella et autres
11 citationsBrain
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial function
Francesca Magrinelli, Christelle Tesson, Plamena R. Angelova, José Antonio Rodríguez Rodríguez et autres
6 citationsmedRxiv
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