Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease

Molecular pathophysiology of human MICU1‐deficiency

(2021) Nicolai Kohlschmidt et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

(2021) Daniel Natera-de Benito et al.   PEDIATRIC NEUROLOGY

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

(2020) Menelaos Pipis et al.   BRAIN

The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

(2020) Louise Benarroch et al.   NEUROMUSCULAR DISORDERS

Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

(2019) Jonas Görlach et al.   MUSCLE & NERVE

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

(2018) Adriana P Rebelo et al.   BRAIN

Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

(2018) Michael E Shy   BRAIN

Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

(2017) Andreas Roos et al.   Proteomics Clinical Applications

Mitochondrial cytochrome c oxidase deficiency

(2016) M. Rak et al.   CLINICAL SCIENCE

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

(2014) Rathi Prasad et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis

(2013) Jonathon Telianidis et al.   Frontiers in Aging Neuroscience

The first comprehensive and quantitative analysis of human platelet protein composition allows the comparative analysis of structural and functional pathways

(2012) J. M. Burkhart et al.   BLOOD

Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient

(2012) Juliana Gurgel-Giannetti et al.   JAMA Neurology

SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

(2011) Claudia Stendel et al.   BRAIN

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Fe-deration of Neurological Societies and the Peripheral Ne

(2010) G. Lauria et al.   EUROPEAN JOURNAL OF NEUROLOGY

Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

(2010) Giuseppe Lauria et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

(2009) Scot C. Leary et al.   HUMAN MOLECULAR GENETICS

Phenotypic consequences of a novelSCO2gene mutation

(2008) Rob M. Verdijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A