Reyes Claramunt

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

Laia Pedrola, Antonio Espert, Xingyao Wu et al. · Human Molecular Genetics · 2005 · 178 citations · Full text

The p.R1109X mutation in <i>SH3TC2</i> gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4

Reyes Claramunt, Teresa Sevilla, Vincenzo Lupo et al. · Clinical Genetics · 2007 · 43 citations · Full text

The value of GLI1 and p16 immunohistochemistry in the premolecular screening for GLI1-altered mesenchymal neoplasms

Isidro Machado, Abbas Agaimy, Francisco Giner et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2023 · 21 citations · Full text

Medicine, Histopathology, Pathology +9

Superficial <i>GLI1</i>‐amplified mesenchymal neoplasms: Expanding the spectrum of an emerging entity which reaches the realm of dermatopathology

Isidro Machado, Gregory A. Hosler, V. Través et al. · Journal of Cutaneous Pathology · 2022 · 18 citations

Surgical Oncology, Cutaneous Biology, Surgical Pathology +15

Quality management system in PGD/PGS: now is the time

Xavier Vendrell, Raquel Carrero, Trinitat M. Alberola et al. · Journal of Assisted Reproduction and Genetics · 2009 · 16 citations · Full text

Total Quality Management, Quality Assurance, Engineering +8