Joshua Manor - The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem

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论文共 24 篇作者统计合作学者相似作者

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In Depth Profiling of Dihydrolipoamide Dehydrogenase Deficiency in Primary Patients Fibroblasts Reveals Metabolic Reprogramming Secondary to Mitochondrial Dysfunction

Uri Sprecher, Jeevitha Dsouza,Monzer Marisat,Dinorah Barasch,Kumudesh Mishra,Or Kakhlon,Joshua Manor,Yair Anikster,Miguel Weil

MOLECULAR GENETICS AND METABOLISM REPORTS (2025)

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The Natural History of Dihydrolipoamide Dehydrogenase Deficiency in Israel

Ben Pode-Shakked,Yuval E. Landau,Nava Shaul Lotan,Joshua Manor, Nitsan Haham,Eyal Kristal,Eli Hershkovitz,Guy Hazan, Yarden Haham,Shlomo Almashanu,Yair Anikster,Orna Staretz-Chacham

Journal of inherited metabolic diseaseno. 5 (2024): 895-902

引用2浏览0WOS引用

Heteroplasmic Pathogenic M.12315g>a Variant in MT‐TL2 Presenting with MELAS Syndrome and Depletion of Nitric Oxide Donors

Matthew T. Snyder,Joshua Manor,Charul Gijavanekar,Elizabeth Mizerik,Stephen F. Kralik,Sarah H. Elsea,Keren Machol,Lisa Emrick,Fernando Scaglia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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Genetic Analysis of the X-linked Adrenoleukodystrophy ABCD1 Gene in Drosophila Uncovers a Role in Peroxisomal Dynamics

Joshua Manor,Sharayu V Jangam,Hyung-Lok Chung,Pranjali Bhagwat,Jonathan Andrews, Hillary Chester,Shu Kondo, Saurabh Srivastav,Juan Botas,Ann B Moser, Suzette M Huguenin,Michael F Wangler

bioRxiv the preprint server for biology (2024)

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Untargeted Metabolomics, Targeted Care: the Clinical Utilities of Bedside Metabolomics

Joshua Manor, Sarah H. Elsea

Clinical Metabolomics Applications in Genetic Diseasespp.117-145, (2023)

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Untargeted Metabolomics in Newborn Screening

Joshua Manor, Sarah H. Elsea

Clinical Metabolomics Applications in Genetic Diseasespp.97-116, (2023)

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NAXE Deficiency: A Neurometabolic Disorder of NAD(P)HX Repair Amenable for Metabolic Correction

Joshua Manor,Daniel Calame,Charul Gijavanekar,Kristen Fisher,Jill Hunter,Elizabeth Mizerik,Carlos Bacino,Fernando Scaglia,Sarah H. Elsea

Molecular Genetics and Metabolismno. 2 (2022): 101-110

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ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models

Joshua Manor,Hyunglok Chung,Pranjali K Bhagwat,Michael F Wangler

JOURNAL OF NEUROSCIENCE RESEARCH（2021）

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A Rare Description of Pure Partial Trisomy of 16q12.2q24.3 and Review of the Literature

Joshua Manor,Daniela Dinu,Mahshid S. Azamian,Weimin Bi,Sandra Darilek,Seema R. Lalani

American Journal of Medical Genetics Part A（2021）

引用3浏览0WOS引用

Clinical Variability in Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: a Review of the Literature

Joshua Manor,Kalyani Patel,Ionela Iacobas,Judith F. Margolin,Priya Mahajan

Pediatric Hematology & Oncology（2021）

引用7浏览0WOS引用

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