Penina Ponger

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

A. Fattal-Valevski, S. Ben-Shachar, L. Ben‐Sira, 2021, European Journal of Human Genetics.

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

A. Brice, G. Stevanin, J. Gomori, 2015, Neurology.

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon

Nir Giladi, T. Gurevich, I. Lerer, 2022, Journal of Molecular Neuroscience.

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

O. Schueler‐Furman, J. Gomori, M. Harel, 2015, Brain : a journal of neurology.

Low-risk lumbar skin stigmata in infants: the role of ultrasound screening.

S. Constantini, L. Ben‐Sira, E. Miller, 2009, The Journal of pediatrics.

Evaluation of Dorsal Midline Discolorations with Physical Examination and Ultrasound

S. Constantini, L. Ben‐Sira, Penina Ponger, 2017, The Journal of pediatrics.

International survey on the management of skin stigmata and suspected tethered cord

S. Constantini, L. Ben‐Sira, P. Steinbok, 2010, Child's Nervous System.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.