Debora Rapaport

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov, Ofer Sarig, Robert M. Harmon et al. · Nature Genetics · 2013 · 330 citations · Full text

Allergy, Autoimmune Disease, Atopic Dermatitis +9

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren et al. · The American Journal of Human Genetics · 2005 · 197 citations · Full text

Snare Protein Involved, Neuromuscular Junction, Cerebral Dysgenesis +12

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

Mayana Zatz, Debora Rapaport, Mariz Vainzof et al. · Journal of the Neurological Sciences · 1991 · 158 citations

Muscle Function, Biochemistry, Skeletal Muscle +7

EHD1 regulates β1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration

Marko Jović, Naava Naslavsky, Debora Rapaport et al. · Journal of Cell Science · 2007 · 125 citations

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz et al. · The American Journal of Human Genetics · 2009 · 97 citations · Full text

Cutis Laxa, Pathology, Dermatology +4