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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesteraseExpand
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Multiple sclerosis: report on 200 cases from Curitiba, Southern Brazil and comparison with other Brazilian series.
We reviewed the clinical and laboratory findings of 200 patients in Curitiba, Southern Brazil (25 degrees 25'40" S; 49 degrees 16'23" W-GR), with multiple sclerosis (MS)according to Poser's criteria.Expand
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Cervical dystonia: clinical and therapeutic features in 85 patients.
We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation.Expand
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Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20Expand
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The effect of breath physiotherapeutic maneuvers on cerebral hemodynamics: a clinical trial.
OBJECTIVE To observe the repercussion of respiratory physiotherapy techniques on the mean arterial pressure (MBP), intracranial pressure (ICP), cerebral perfusion pressure (CPP), jugular venousExpand
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Congenital myasthenic syndrome: a brief review.
Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission. Congenital myasthenic syndromes are classified as presynaptic,Expand
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Study comparing the stroke unit outcome and conventional ward treatment: a randomized study in Joinville, Brazil.
BACKGROUND AND PURPOSE To assess the impact of a stroke unit (SU) on acute phase treatment when compared to a conventional general ward treatment (GW). METHOD Seventy-four patients with acuteExpand
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A clinical epidemiological study of 251 cases of amyotrophic lateral sclerosis in the south of Brazil.
OBJECTIVE To study the clinical forms of amyotrophic lateral sclerosis (ALS) and the possible presence of risk factors in order to verify if there is any difference between cases in Paraná, Brazil.Expand
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Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation
INTRODUCTION Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromesExpand
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Chronic inflammatory demyelinating polyradiculoneuropathy in chronic graft-versus-host disease following allogeneic hematopoietic stem cell transplantation: case report.
The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important complication of hematopoietic stem cell transplantation (HSCT) rarely reported to date. We describe aExpand
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