Ganglioside catabolism in hexosaminidase A-deficient adults

Deubiquitination of EGFR by Cezanne-1 contributes to cancer progression.

Oncogene·2011

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Molecular genetics and metabolism·2010

Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Journal of inherited metabolic disease·2008

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families.

Molecular psychiatry·2007

Is the WKL1 gene associated with schizophrenia?

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2004

31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.

Journal of child neurology·2001

An operational perturbation proteomics-based virtual cell model.

Nature·2026

Integrated signatures define mutational processes in prostate cancer.

Nature·2026

Advancing conflict research and response through satellite-derived data.

Nature·2026

Imaging cellular activity across all organs reveals body-wide circuits.

Nature·2026

Neocortical long-range inhibition promotes cortical synchrony and sleep.

Nature·2026

TRI-611, a selective, brain-penetrant molecular glue degrader of ALK.

Nature·2026

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Cureus·2026

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Nature. Mental health·2026

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Wellcome open research·2026

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Hemoglobin·2026

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.

Nature communications·2026

Accelerated Aging Fontan Phenotype Is Associated With Systemic Right Ventricles and Adverse Hemodynamics.

Journal of the American Heart Association·2026

Related Experiment Videos

Ganglioside catabolism in hexosaminidase A-deficient adults

Related Concept Videos

Deubiquitination of EGFR by Cezanne-1 contributes to cancer progression.

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families.

Is the WKL1 gene associated with schizophrenia?

31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.

An operational perturbation proteomics-based virtual cell model.

Integrated signatures define mutational processes in prostate cancer.

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Imaging cellular activity across all organs reveals body-wide circuits.

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TRI-611, a selective, brain-penetrant molecular glue degrader of ALK.

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

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Ganglioside catabolism in hexosaminidase A-deficient adults

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