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Publications by Martin J. Larsen

Mosaic MECP2 Variants in Males With Classical Rett Syndrome Features, Including Stereotypical Hand Movements

Clinical Genetics

English

Exome Sequencing Revealed DNA Variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as Potential Novel Causes of Ketotic Hypoglycemia in Children

Scientific Reports

Multidisciplinary

English

Related publications

Rett Syndrome and MeCP2

NeuroMolecular Medicine

Molecular Neuroscience

Molecular Medicine

English

MECP2 Mutations Associated With Rett Syndrome - Molecular Approaches

Journal of Neonatal Biology

English

Rett Syndrome Without MECP2 Mutation in a Pakistani Girl

Life and Science

English

Gross Rearrangements of the MECP2 Gene Are Found in Both Classical and Atypical Rett Syndrome Patients

Journal of Medical Genetics

English

MeCP2 Mutations in Children With and Without the Phenotype of Rett Syndrome

English

Mutational Analysis of the MECP2 Gene in Japanese Patients With Rett Syndrome

Journal of Human Genetics

English

MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients

Frontiers in Genetics

Molecular Medicine

English

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

Pediatric Neurology

Developmental Neuroscience

English

Bisphosphonates and MeCP2 Deficiency: Cellular Studies and Clinical Application in Rett Syndrome

Journal of Musculoskeletal Disorders and Treatment

English