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Publications by Stephen G. Kaler

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

American Journal of Human Genetics
Genetics
2010English

Microbial Peptide De-Coppers Mitochondria: Implications for Wilson Disease

Journal of Clinical Investigation
Medicine
2016English

197. Survival, Growth, and Neurobehavioral Outcomes in a Mouse Model of Menkes Disease With CSF-Directed AAV9 and Subcutaneous Copper Histidine

Molecular Therapy
Molecular MedicineMolecular BiologyPharmacologyMedicineGeneticsDrug Discovery
2015English

356. High-Resolution X-Ray Fluorescence Microscopy (XFM) Indicates Enhanced Brain Copper Delivery in AAV9-Treated Menkes Disease Mice

Molecular Therapy
Molecular MedicineMolecular BiologyPharmacologyMedicineGeneticsDrug Discovery
2016English

Translational Research Investigations on ATP7A: An Important Human Copper ATPase

Annals of the New York Academy of Sciences
GeneticsMolecular BiologyBiochemistryNeuroscienceHistoryPhilosophy of Science
2014English

Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: An Applied Anthropometric Method

American Journal of Physical Anthropology
AnatomyAnthropology
1986English

Internal Jugular Phlebectasia in Menkes Disease

International Journal of Pediatric Otorhinolaryngology
MedicineOtorhinolaryngologyPediatricsPerinatologyChild Health
2007English

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