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Publications by Thomas Klopstock
Mitochondrial Replacement Approaches: Challenges for Clinical Implementation
Genome Medicine
Molecular Medicine
Genetics
Molecular Biology
Loss of Paraplegin Drives Spasticity Rather Than Ataxia in a Cohort of 241 Patients With SPG7
Neurology
Neurology
Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing
Journal of Medical Genetics
Genetics
Neuromelanin, Neurotransmitter Status and Brainstem Location Determine the Differential Vulnerability of Catecholaminergic Neurons to Mitochondrial DNA Deletions
Molecular Brain
Molecular Neuroscience
Molecular Biology
Cellular
The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration
Clinical Trials
Medicine
Pharmacology
Consensus Clinical Management Guideline for Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Consensus-Based Statements for the Management of Mitochondrial Stroke-Like Episodes
Wellcome Open Research
Biochemistry
Medicine
Genetics
Molecular Biology
Sengers Syndrome: Six Novel AGK Mutations in Seven New Families and Review of the Phenotypic and Mutational Spectrum of 29 Patients
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Recommendations for Patient Screening in Ultra-Rare Inherited Metabolic Diseases: What Have We Learned From Niemann-Pick Disease Type C?
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
A Comprehensive and Comparative Phenotypic Analysis of the Collaborative Founder Strains Identifies New and Known Phenotypes
Mammalian Genome
Genetics
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