Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL

Neurology

Volumn 59, Issue 4, 2002, Pages 617-620

  Malandrini, A ^a   Albani, F ^a   Palmeri, S ^a   Fattapposta, F ^a   Gambelli, S ^a   Berti, G ^a   Bracco, A ^a   Tammaro, A ^a   Calzavara, S ^a   Villanova, M ^a   Ferrari, M ^a   Rossi, A ^a   Carrera, P ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH RECEPTOR; RYANODINE RECEPTOR;

ADULT; ARTICLE; CADASIL; CASE REPORT; CEREBROVASCULAR DISEASE; CLINICAL EXAMINATION; FEMALE; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MUSCLE CELL; PRIORITY JOURNAL; RECEPTOR GENE; SYMPTOM;

EID: 0037183531     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.4.617     Document Type: Article

References (10)

1. Endothelial changes in muscle and skin biopsies in patients with CADASIL
2. CADASIL cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
3. Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy
4. Refined genetic localization for central core disease
5. Polymorphisms and deduced amino acid substitutions in the coding sequence of the Ryanodine receptor (Ryr1) gene in individuals with malignant hyperthermia
6. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
7. CADASIL: Hereditary arteriopathy leading to multiple brain infarcts and dementia
8. Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family
9. The action of the notch locus in Drosophila melanogaster. I. Effects of the Notch8 deficiency on mitochondrial enzymes
10. The action of the notch locus in Drosophila melanogaster. II. Biochemical effects of recessive lethals on mitochondrial enzymes