J. Martin-Martinez

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The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test(More)
INTRODUCTION AND OBJECTIVE The association between the leucocyte count and prognosis observed in ischemic cerebrovascular disease and subarachnoid hemorrhage has rarely been reported in primary intracerebral hemorrhage. The objective of our study is to assess the importance of the number of leukocytes in the peripheral blood during the first 24 hours for(More)
INTRODUCTION Sexual dysfunction is a frequent disorder associated to multiple sclerosis, that contributes to the worsening of life quality of these patients. AIM To ascertain how it is managed in a demyelinating disease unit. PATIENTS AND METHODS It was done an anonymous poll to multiple sclerosis patients in a demyelinating disease unit. The following(More)
Foix-Chavany-Marie Syndrome or anterior opercular syndrome constitutes the cortical form of pseudobulbar palsy. Its most common etiology is stroke in the region of either operculum. Clinically it can be characterized by severe dysarthria and facio-pharyngo-glosso-masticatory dysplasia with automatic-voluntary dissociation. An inversion of this classical(More)
PATIENTS AND METHODS Of a total of 283 patients with spontaneous or hypertensive cerebral intraparenchymatous hemorrhage, 18 (6.3%), with no previous epilepsy, had crises whilst being followed-up for a period of between 2 and 7 years. In 14 cases the hematoma was lobar and 4 involved the basal ganglia or thalamus. In 8 cases (2.8% of all hemorrhage), these(More)
Multiple sclerosis is likely caused by a complex interaction of multiple genes and environmental factors. The contribution of mitochondrial DNA genetic backgrounds has been frequently reported. To evaluate the effect of mitochondrial DNA haplogroups in the same genetic and environmental circumstances, we have built human transmitochondrial cell lines and(More)
INTRODUCTION. There are many forms of neuro-ophthalmological involvement secondary to syphilis, and not all of them are well known. Our aim is to determine the clinical and therapeutic differences in these patients. CASE REPORTS. Our sample included eight patients diagnosed with an ocular and neuro-ophthalmological disorder due to syphilis over the years(More)
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