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Journal of Neurology|April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosisDalit Barel, Daphna Marom, Penina Ponger, et al.Journal of Molecular Neuroscience : MN|June 8, 2022
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison ExonPenina Ponger, Alina Kurolap, Israela Lerer, et al.Telemedicine Journal and E-Health : the Official Journal of the American Telemedicine Association|November 9, 2023
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction RatesUri Hamiel, Audelia Eshel Fuhrer, Nitsan Landau, et al.Neurology|January 23, 2015
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegiaAlexander Lossos, Claudia Stümpfig, Giovanni Stevanin, et al.Parkinsonism & Related Disorders|August 29, 2024
Levodopa-carbidopa intestinal gel for advanced Parkinson's disease: Impact of LRRK2 and GBA1 mutationsAvner Thaler, Saar Anis, Penina Ponger, et al.Brain : a Journal of Neurology|July 17, 2015
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorderAlexander Lossos, Nimrod Elazar, Israela Lerer, et al.Movement Disorders Clinical Practice|June 5, 2025
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics ClinicDvir Penn, Yam Amir, Gil Ben David, et al.Parkinsonism & Related Disorders|July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) studySaar Anis, Caroline Weill, Penina Ponger, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.Pageof 2