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Publications by Paul Gissen

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English

Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)

English

Multiplex High-Throughput Targeted Proteomic Assay to Identify Induced Pluripotent Stem Cells

Analytical Chemistry

Analytical Chemistry

English

Identification of Novel Bile Acids as Biomarkers for the Early Diagnosis of Niemann-Pick C Disease

Molecular Biology

Structural Biology

English

A Single Cell High Content Assay Detects Mitochondrial Dysfunction in iPSC-derived Neurons With Mutations in SNCA

Scientific Reports

Multidisciplinary

English

Argininosuccinic Aciduria: Recent Pathophysiological Insights and Therapeutic Prospects

Journal of Inherited Metabolic Disease

English

Mutation Detection in Cholestatic Patients Using Microarray Resequencing of ATP8B1 and ABCB11

Molecular Biology

English

Diagnostic Workup and Management of Patients With Suspected Niemann-Pick Type C Disease

Therapeutic Advances in Neurological Disorders

English

Disorders of Tyrosine Metabolism

English