• Publications
  • Influence
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying theExpand
  • 196
  • 19
  • PDF
Thymoma associated with autoimmune diseases: 85 cases and literature review.
OBJECTIVES To describe the clinical features, treatment, and outcome of autoimmune diseases (AD) in a cohort of patients with thymoma. DESIGN Pathological records from three university hospitals,Expand
  • 110
  • 8
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
Background: Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement couldExpand
  • 83
  • 7
The pattern and diagnostic criteria of sensory neuronopathy: a case–control study
Acquired sensory neuronopathies encompass a group of paraneoplastic, dysimmune, toxic or idiopathic disorders characterized by degeneration of peripheral sensory neurons in dorsal root ganglia. AsExpand
  • 151
  • 6
  • PDF
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described inExpand
  • 56
  • 6
Paraneoplastic Peripheral Neuropathy Associated With Anti‐hu Antibodies. A Clinical And Electrophysiological Study Of 20 Patients
Summary Although paraneoplastic subacute sensory neuronopathy is the most frequent presentation of peripheral neuropa- thy in patients with anti-Hu antibodies, other neuropa- thies have beenExpand
  • 55
  • 6
Paraneoplastic anti‐CV2 antibodies react with peripheral nerve and are associated with a mixed axonal and demyelinating peripheral neuropathy
Subacute sensory neuronopathy with anti‐Hu antibodies is the best‐characterized paraneoplastic peripheral neuropathy associated with carcinoma. Anti‐CV2 antibodies, another group of paraneoplasticExpand
  • 144
  • 5
Paraneoplastic peripheral neuropathy associated with anti-Hu antibodies. A clinical and electrophysiological study of 20 patients.
Although paraneoplastic subacute sensory neuronopathy is the most frequent presentation of peripheral neuropathy in patients with anti-Hu antibodies, other neuropathies have been reported. In orderExpand
  • 162
  • 4
  • PDF
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functionalExpand
  • 28
  • 4
Neurological features in adult Triple-A (Allgrove) syndrome
Triple-A or Allgrove syndrome is a rare multisystem disease classically associated with esophageal achalasia, adrenal insufficiency and alacrima. Here, we describe the poorly understood neurologicalExpand
  • 43
  • 3