Elham Alehabib
Overview
Explore the profile of Elham Alehabib including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
215
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Recent Articles
1.
Ramshe S, Zardadi S, Alehabib E, Nourinia R, Jamshidi J, Soosanabadi M, et al.
J Ophthalmic Vis Res
. 2024 Apr;
19(1):118-132.
PMID: 38638626
Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients...
2.
Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Moghadam E, Alehabib E, Chapi M, et al.
Amyotroph Lateral Scler Frontotemporal Degener
. 2022 Jul;
24(1-2):148-151.
PMID: 35852402
Amyotrophic lateral sclerosis (ALS) is a rare disorder that affects both upper and lower motor neurons. Mutations in Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) correlates with three similar but...
3.
Alehabib E, Kokotovic T, Ranji-Burachaloo S, Tafakhori A, Ramshe S, Esmaeilizadeh Z, et al.
Clin Neurol Neurosurg
. 2022 Jan;
213:107108.
PMID: 34995834
Objective: Epilepsy is a disease of Central Nervous System (CNS) characterized by abnormal brain activity and recurrent seizures and is considered a clinically and genetically heterogeneous disease. Here, we investigated...
4.
Alehabib E, Esmaeilizadeh Z, Ranji-Burachaloo S, Tafakhori A, Darvish H, Movafagh A
Orphanet J Rare Dis
. 2021 Nov;
16(1):461.
PMID: 34727962
Background: Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that...
5.
Kokotovic T, Langeslag M, Lenartowicz E, Manion J, Fell C, Alehabib E, et al.
Front Mol Neurosci
. 2021 Oct;
14:720973.
PMID: 34646120
PR domain-containing member 12 (PRDM12) is a key developmental transcription factor in sensory neuronal specification and survival. Patients with rare deleterious variants in are born with congenital insensitivity to pain...
6.
Wiessner M, Maroofian R, Ni M, Pedroni A, Muller J, Stucka R, et al.
Brain
. 2021 Sep;
144(8):e70.
PMID: 34480796
No abstract available.
7.
Calame D, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, et al.
Genet Med
. 2021 Aug;
23(12):2455-2460.
PMID: 34385670
Purpose: Alternative splicing plays a critical role in mouse neurodevelopment, regulating neurogenesis, cortical lamination, and synaptogenesis, yet few human neurodevelopmental disorders are known to result from pathogenic variation in splicing...
8.
Darvish H, Azcona L, Taghavi S, Ghasemi Firouzabadi S, Tafakhori A, Alehabib E, et al.
Ann Neurol
. 2021 Jun;
90(2):319-323.
PMID: 34180078
We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The...
9.
Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, et al.
Hum Genet
. 2021 Jun;
141(3-4):785-803.
PMID: 34148116
Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This...
10.
Emamalizadeh B, Daneshmandpour Y, Kazeminasb S, Moghadam E, Bahmanpour Z, Alehabib E, et al.
Int Ophthalmol
. 2021 May;
41(10):3269-3276.
PMID: 34019190
Purpose: Primary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1, LTBP2, MYOC and PXDN genes. The purpose of this study was to investigate mutations in...