Carlos E. Speck‐Martins

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

Marina Kennerson, Garth A. Nicholson, Stephen G. Kaler et al. · The American Journal of Human Genetics · 2010 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

Lila Allou, Sara Balzano, Andreas Magg et al. · Nature · 2021 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami et al. · Nature Communications · 2017 · 110 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Clinical Features and Neurologic Progression of Hyperargininemia

Daniel R. Carvalho, Jaime Moritz Brum, Carlos E. Speck‐Martins et al. · Pediatric Neurology · 2012 · 59 citations

Life Sciences, Neurology, Neuroscience +6

Misoprostol embryotoxicity: Clinical evaluation of fifteen patients with arthrogryposis

Kátia E.F.A. Coelho, Martha vF. Sarmento, Celina M. Veiga et al. · American Journal of Medical Genetics · 2000 · 54 citations

Medicine, Gynecology, Obstetrics +15