Publications by authors named "Inmaculada Pitarch"

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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Javier Poyatos-García, Pilar Martí, Alessandro Liquori, Nuria Muelas, Inmaculada Pitarch

Ann Neurol· November 2022

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A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Herminia Argente-Escrig, Juan J Vílchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorín, Inmaculada Pitarch

Neuropathol Appl Neurobiol· August 2022

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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Herminia Argente-Escrig, Marina Frasquet, Juan Francisco Vázquez-Costa, Elvira Millet-Sancho, Inmaculada Pitarch

Ann Clin Transl Neurol· September 2021

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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
Herminia Argente-Escrig, Ana Sánchez-Monteagudo, Marina Frasquet, Elvira Millet-Sancho, Maria Dolores Martínez-Rubio, Inmaculada Pitarch

J Neurol Sci· July 2019

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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Inmaculada Pitarch

PLoS One· May 2019

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