Alejandra Mampel

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

Verónica Ferreiro, Florencia Giliberto, García M. Noelia Muñiz et al. · Muscle & Nerve · 2008 · 58 citations · Full text

<i>PURA-</i> Related Developmental and Epileptic Encephalopathy

Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen et al. · Neurology Genetics · 2021 · 47 citations · Full text

Allopregnanolone Increase in Striatal N-Methyl-D-aspartic Acid Evoked [3H]Dopamine Release Is Estrogen and Progesterone Dependent

Ricardo Cabrera, Claudia Bregonzio, Myriam Raquel Laconi et al. · Cellular and Molecular Neurobiology · 2002 · 30 citations · Full text

A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

Lía Mayorga, Beatriz Gamboni, Alejandra Mampel et al. · Molecular Genetics and Metabolism · 2018 · 27 citations · Full text

Genetics, Pathogenesis, Pathology +6

Cantu syndrome and lymphoedema

Diana García‐Cruz, Alejandra Mampel, Maria I. Echeverria et al. · Clinical Dysmorphology · 2010 · 25 citations

Rheumatology, Heterochromia Iridis, Autoimmune Disease +14