Argemiro Geraldo

Recessive variants of <i>MuSK</i> are associated with late onset CMS and predominant limb girdle weakness

David J Owen, Ana Töpf, Veeramani Preethish‐Kumar et al. · American Journal of Medical Genetics Part A · 2018 · 32 citations

Medicine, Genetics, Molecular Genetics +17

Screening for Pompe disease in a Portuguese high risk population

Vânia Almeida, Isabel Conceição, Isabel Fineza et al. · Neuromuscular Disorders · 2017 · 19 citations · Full text

Medicine, Health Sciences, Preventive Medicine +6

Disabling Central Paroxysmal Positioning Upbeat Nystagmus and Vertigo Associated With the Presence of Anti–Glutamic Acid Decarboxylase Antibodies

Ana Inês Martins, João N. Carvalho, Ana Margarida Amorim et al. · Journal of Neuro-Ophthalmology · 2017 · 18 citations

Life Sciences, Immunology, Neurology +17

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

Rosário Santos, Jorge Oliveira, Emília Vieira et al. · Journal of Human Genetics · 2010 · 14 citations

Life Sciences, Genetics, Molecular Genetics +14

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

João Durães, Inês Coutinho, Angelina Mariano et al. · Multiple Sclerosis Journal · 2018 · 13 citations

Medicine, Neurology, Oncology +17