Mena Scavina
Alfred I. duPont Hospital for Children
26 Papers
188 Citations
Mena Scavina is an academic researcher from Alfred I. duPont Hospital for Children. The author has contributed to research in topics: Medicine & SMN1. The author has an hindex of 12, co-authored 21 publications.
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Papers
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
TL;DR: Autosomal dominant transmission of mutations of NKX2-1 may cause congenital hypothyroidism, neonatal respiratory distress at term, and persistent neurologic findings such as ataxia, choreoathetosis, and dysarthria in families with affected subjects in multiple generations.
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Laminin α2 muscular dystrophy Genotype/phenotype studies of 22 patients
Elena Pegoraro,Harold G. Marks,Carlos A. Garcia,Thomas O. Crawford,Pedro Mancias,Anne M. Connolly,Marina Fanin,F. Martinello,Carlo P. Trevisan,C. Angelini,A. Stella,Mena Scavina,R. L. Munk,S. Servidei,C. C. Bönnemann,Tulio E. Bertorini,Gyula Acsadi,C. E. Thompson,D. Gagnon,G. Hoganson,Virginia H. Carver,R. A. Zimmerman,E P Hoffman +22 more
TL;DR: The data suggest that the large majority of laminin α2-deficient patients show laminIn α2 gene mutations, which are thought to interact with myofiber membrane receptor, such as integrins, and possibly dystrophin-associated glycoproteins.
117
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet.
TL;DR: It is recommended that all patients with bilateral cavovarus feet, especially with a known family history, be investigated for Charcot-Marie-Tooth disease.
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Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Katherine G. Meilleur,Kristen Zukosky,Livija Medne,Pierre R. Fequiere,Nina Powell-Hamilton,Thomas L. Winder,Abdulaziz Al-Saman,Ayman W. El-Hattab,Jahannaz Dastgir,Ying Hu,Sandra Donkervoort,Jeffrey A. Golden,Jeffrey A. Golden,Ralph C. Eagle,Richard S. Finkel,Mena Scavina,Ian C. Hood,Lucy B. Rorke-Adams,Carsten G. Bönnemann +18 more
TL;DR: The first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443 is presented, expanding the clinical and genetic spectrum of dystroglycanopathy.
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Robust quantification of the SMN gene copy number by real-time TaqMan PCR
Ilsa Gomez-Curet,Karyn G. Robinson,Vicky L. Funanage,Vicky L. Funanage,Thomas O. Crawford,Mena Scavina,Wenlan Wang,Wenlan Wang +7 more
TL;DR: A quantitative real-time TaqMan polymerase chain reaction assay for both the SMN1 and SMN2 genes is developed, in which reliable copy number determination was possible on deoxyribonucleic acid samples obtained by two different isolation methods and from two different sources.