A. Geraldo

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.

L. Negrão, O. Rebelo, A. Matos, 2010, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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.

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case–control study

I. Santana, M. R. Almeida, L. Negrão, 2019, Muscle & nerve.

Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma

I. Coutinho, A. Geraldo, M. C. Macário, 2018, Multiple sclerosis.

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Jorge Oliveira, A. Fortuna, T. Evangelista, 2010, Journal of Human Genetics.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

M. Gut, I. Gut, S. Beltran, 2018, American journal of medical genetics. Part A.

Screening for Pompe disease in a Portuguese high risk population

T. Evangelista, I. Conceição, J. P. Vieira, 2017, Neuromuscular Disorders.

Ischaemic stroke as the initial manifestation of systemic amyloidosis

A. Geraldo, J. Durães, José Beato-Coelho, 2019, BMJ Case Reports.

Cutaneous graft‐versus‐host‐like disease in a patient with fatal thymoma

J. Cardoso, A. Geraldo, R. Calado, 2023, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.