NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly

Authors: David Pomarino, Anna Emelina, Jens Heidrich, Kevin Rostásy, Svenja Schirmer, Jan O. Schönfeldt, Anneke Thren, Ferdinand Wagner, Johanna Ronja Thren, Nina Berger

Source: Global Medical Genetics, Vol 10, Iss 02, Pp 063-071 (2023)

Subject Terms: idiopathic toe walking, pes cavus, toe walking family history, cause toe walking, itw, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/d1aff3f66d124c219c36486c79648519

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Authors: David Pomarino, Anneke Thren, Johanna R. Thren, Kevin Rostasy, Anna A. Emelina

Source: Вопросы современной педиатрии, Vol 20, Iss 4, Pp 310-315 (2021)

Subject Terms: toe walking, mutation, crebbp gene, heredity, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/2700; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

Access URL: https://doaj.org/article/6a7bc41e4a3347faa592899e871eb423

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Authors: David Pomarino, Johanna Ronja Thren, Anneke Thren, Kevin Rostasy, Jan Schoenfeldt

Source: Global Medical Genetics, Vol 09, Iss 01, Pp 051-053 (2022)

Subject Terms: sca 13, spinocerebellar ataxia 13, toe walking, idiopathic toe walking, habitual toe walking, genetic testing toe walking, pes cavus, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/c35d92bb72334b17b118cb98165d27be

Genetic Factors Associated with Toe Walking in Children

Authors: David Pomarino, Anneke Thren, Stefaine Morigeau, Johanna R. Thren, Anna A. Emelina

Source: Вопросы современной педиатрии, Vol 19, Iss 2, Pp 146-149 (2020)

Subject Terms: idiopathic toe walking, gait abnormality, pes cavus, inheritance, genes, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/2381; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

Access URL: https://doaj.org/article/ce67830179d4418391a060a67fa31d6c