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Nigral Iron Elevation Is an Invariable Feature of Parkinson’s Disease and Is a Sufficient Cause of Neurodegeneration

BioMed research international, 2014-01, Vol.2014, p.581256-9

2014

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Role of NADPH Oxidase-Mediated Reactive Oxygen Species in Podocyte Injury

BioMed research international, 2013-01, Vol.2013, p.839761-7

2013

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Prooxidant Mechanisms in Iron Overload Cardiomyopathy

BioMed research international, 2013-01, Vol.2013, p.740573-8

2013

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Prooxidant Effects of Verbascoside, a Bioactive Compound from Olive Oil Mill Wastewater, on In Vitro Developmental Potential of Ovine Prepubertal Oocytes and Bioenergetic/Oxidative Stress Parameters of Fresh and Vitrified Oocytes

BioMed research international, 2014-01, Vol.2014, p.878062-14

2014

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Protective Effect of Alpha-Tocopherol Isomer from Vitamin E against the H2O2 Induced Toxicity on Dental Pulp Cells

BioMed research international, 2014-01, Vol.2014, p.895049

2014

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The Renal Effects of Vanadate Exposure: Potential Biomarkers and Oxidative Stress as a Mechanism of Functional Renal Disorders—Preliminary Studies

BioMed research international, 2014-01, Vol.2014, p.740105-15

2014

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Nature genetics, 2016-09, Vol.48 (9), p.1071-1076

2016

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2012-03, Vol.90 (3), p.457-466

2012

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Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science (American Association for the Advancement of Science), 2024-05, Vol.384 (6695), p.584-590

2024

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Genetics in medicine, 2020-11, Vol.22 (11), p.1851-1862

2020

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Nature genetics, 2015-07, Vol.47 (7), p.809-813

2015

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604

2013

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

American journal of human genetics, 2016-08, Vol.99 (2), p.501-510

2016

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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

American journal of human genetics, 2013-03, Vol.92 (3), p.468-474

2013

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Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

BMC research notes, 2023-04, Vol.16 (1), p.53-53, Article 53

2023

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Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials

BMC medicine, 2024-07, Vol.22 (1), p.1-15, Article 299

2024

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

American journal of human genetics, 2016-04, Vol.98 (4), p.615-626

2016

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Samia Temtamy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3613-3614

2021

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Mutations in CSPP1 Lead to Classical Joubert Syndrome

American journal of human genetics, 2014-01, Vol.94 (1), p.80-86

2014

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Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

American journal of human genetics, 2016-01, Vol.98 (1), p.210-215

2016

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Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2014-12, Vol.95 (6), p.721-728

2014

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

American journal of human genetics, 2016-11, Vol.99 (5), p.1181-1189

2016

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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Journal of medical genetics, 2021-07, Vol.58 (7), p.495-504

2021

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Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases

Journal of the neurological sciences, 2017-12, Vol.383, p.188-198

2017

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Nigral Iron Elevation Is an Invariable Feature of Parkinson’s Disease and Is a Sufficient Cause of Neurodegeneration

Role of NADPH Oxidase-Mediated Reactive Oxygen Species in Podocyte Injury

Prooxidant Mechanisms in Iron Overload Cardiomyopathy

Prooxidant Effects of Verbascoside, a Bioactive Compound from Olive Oil Mill Wastewater, on In Vitro Developmental Potential of Ovine Prepubertal Oocytes and Bioenergetic/Oxidative Stress Parameters of Fresh and Vitrified Oocytes

Protective Effect of Alpha-Tocopherol Isomer from Vitamin E against the H2O2 Induced Toxicity on Dental Pulp Cells

The Renal Effects of Vanadate Exposure: Potential Biomarkers and Oxidative Stress as a Mechanism of Functional Renal Disorders—Preliminary Studies

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Samia Temtamy

Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases

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