Search Results - "Albash B"

Trans-2,3-enoyl-CoA reductase-like-related catecholaminergic polymorphic ventricular tachycardia in a child: Clinical course and management outcomes.

Authors: Kulbachinskaya, E. K. Pushkov, A. A. Bereznitskaya, V. V. et al.

Source: Annals of Pediatric Cardiology. May/Jun2026, Vol. 19 Issue 3, p333-336. 4p.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Authors: Shamseldin HE Marafi D AlMuhaizea M et al.

Source: Scientific reports [Sci Rep] 2026 Jul 15. Date of Electronic Publication: 2026 Jul 15.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

Authors: Alghamdi M Alahmad A Alaboudi M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109867. Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Authors: Alhammad F Ali NY Alkanderi S et al.

Source: Global medical genetics [Glob Med Genet] 2026 May 24; Vol. 13 (2), pp. 100110. Date of Electronic Publication: 2026 May 24 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Thieme Country of Publication: Netherlands NLM ID: 101769583 Publication Model: eCollection Cited Medium: Internet ISSN: 2699-9404 (Electronic) Linking ISSN: 26999404 NLM ISO Abbreviation: Glob Med Genet Subsets: PubMed not MEDLINE

Mitochondrial-specific perturbation of Drosophila RNase Z in neurons leads to motor impairments, disrupted learning and neurodegeneration.

Authors: Rajamani, Saathvika Vilchez, Lucia Cracovia, Nicole et al.

Source: PLoS Genetics. 11/3/2025, Vol. 21 Issue 10, p1-30. 30p.

Mechanism of Electroacupuncture at Jiaji Acupoints (EX‐B2) Improving Neuropathic Pain in Cervical Spondylotic Radiculopathy Rats via Modulating Microglial STAT3 Phosphorylation and Mitochondrial Function.

Authors: Luo, Shuai Yuan, Wei-na Gu, Jing-dong et al.

Source: Acta Neurologica Scandinavica. 4/18/2026, Vol. 2026, p1-22. 22p.

Dilated Cardiomyopathy and Sensorimotor Polyneuropathy Associated with a Homozygous ELAC2 Variant: A Case Report and Literature Review.

Authors: Ravera, Francesco Angelini, Filippo Bocchino, Pier Paolo et al.

Source: Cardiogenetics. Sep2025, Vol. 15 Issue 3, p20. 15p.

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Authors: Kalkan Uçar, Sema Elek, Alperen Yazıcı, Havva et al.

Source: European Journal of Clinical Nutrition. Aug2025, Vol. 79 Issue 8, p723-730. 8p.

Genomic exploration of pediatric neurological disorders: a case series.

Authors: Tayade, Naresh Manoj, Gautham Kewat, Akshay et al.

Source: Journal of Medical Case Reports. 1/31/2025, Vol. 19 Issue 1, p1-7. 7p.

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

Authors: Al-Hussaini, Abdulrahman AlMannai, Mohammed Alruwaithi, Muhannad et al.

Source: PLoS ONE. 7/31/2025, Vol. 20 Issue 7, p1-16. 16p.

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.

Authors: Aljassar RW Shen Q Albash B et al.

Source: Genetics in medicine open [Genet Med Open] 2024 Jul 16; Vol. 2, pp. 101868. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Authors: Alzayed NT Alzuabi AH Alqusaimi RA et al.

Source: Neurology. Genetics [Neurol Genet] 2024 May 22; Vol. 10 (3), pp. e200156. Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.

Authors: Gao, Shiyang Zhang, Qianwen Feng, Biyun et al.

Source: Molecular Genetics & Genomic Medicine. Sep2023, Vol. 11 Issue 9, p1-9. 9p.

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Authors: Kraoua, Lilia Louati, Assaad Ahmed, Sarra Ben et al.

Source: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-12. 12p.

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Authors: Cafournet, Cérane Zanin, Sofia Guimier, Anne et al.

Source: Life (2075-1729). Feb2023, Vol. 13 Issue 2, p445. 12p.

The Identification of Proteolytic Substrates of Calpain-5 with N-Terminomics.

Authors: Gal, Jozsef Dufour, Antoine Young, Daniel et al.

Source: International Journal of Molecular Sciences. Jul2025, Vol. 26 Issue 13, p6459. 24p.

Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.

Authors: Iyengar, Rahul Deardorff, Matthew Schmidt, Ryan et al.

Source: Ophthalmic Genetics. Dec2023, Vol. 44 Issue 6, p572-576. 5p.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Authors: Kaiyrzhanov R Mohammed SEM Maroofian R et al.

Source: American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1692-1712.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Expanding the Clinical Spectrum of LYRM7-Associated Mitochondrial Complex III Deficiency: Insights from New Cases and Literature Review.

Authors: Khan GS Bayat S Azizimalamiri R et al.

Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2026 Apr 30; Vol. 76 (2). Date of Electronic Publication: 2026 Apr 30.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

Precision information extraction for rare disease epidemiology at scale.

Authors: Kariampuzha, William Z. Alyea, Gioconda Qu, Sue et al.

Source: Journal of Translational Medicine. 2/28/2023, Vol. 21 Issue 1, p1-18. 18p.