J. Pinto-Basto

A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum

P. Pereira, A. Guerreiro, M. Fonseca, 2016, Movement disorders clinical practice.

Absence of viral nucleic acids in early and late dilated cardiomyopathy

W. Mckenna, G. Arno, P. Risley, 2001, Heart.

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

L. Negrão, L. Almendra, J. Pinto-Basto, 2014, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Sensory neuronopathy in ataxia with oculomotor apraxia type 2

I. Alonso, P. Modrego, J. Gazulla, 2010, Journal of the Neurological Sciences.

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

M. Barbosa, G. Soares, A. Superti-Furga, 2011, Clinical genetics.

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

L. Negrão, J. Pinto-Basto, Rita Machado, 2019, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Inherited and acquired risk factors and their combined effects in pediatric stroke.

P. Maciel, A. Sousa, J. Sequeiros, 2003, Pediatric neurology.

Immunological analysis of the tegument phosphoprotein ppUL83 of human cytomegalovirus.

M. Li, C. Baboonian, R. Milne, 2000, Journal of virological methods.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

A. Bertoli-Avella, L. Selim, H. Tomoum, 2022, European Journal of Human Genetics.

Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene.

K. Claes, M. Barbosa, G. Soares, 2011, Cancer genetics.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.