𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

✍ Scribed by Elena Andreucci; Benedetta Bianchi; Ilaria Carboni; Giancarlo Lavoratti; Marzia Mortilla; Claudio Fonda; Minna Bigozzi; Maurizio Genuardi; Sabrina Giglio; Ivana Pela

Book ID
106161413
Publisher
Springer
Year
2009
Tongue
English
Weight
211 KB
Volume
24
Category
Article
ISSN
0931-041X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Clinical spectrum of patients with erosi
Clinical spectrum of patients with erosion of the inner ear by jugular bulb abnormalities
✍ David R. Friedmann; B. Thuy Le; Bidyut K. Pramanik; Anil K. Lalwani πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 327 KB

## Abstract ## Objectives/Hypothesis: Anatomic variants of the jugular bulb (JB) are common; however, abnormalities such as large high riding JB and JB diverticulum (JBD) are uncommon. Rarely, the abnormal JB may erode into the inner ear. The goal of our study is to report a large series of patien

Parkinson's disease in Ireland: Clinical
Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
✍ Joseph Wiley; Timothy Lynch; Sarah Lincoln; Lisa Skipper; Mary Hulihan; David Go πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 71 KB

## Abstract Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients,

Reactivities and clinical relevance of a
Reactivities and clinical relevance of antimitochondrial antibodies to four mitochondrial inner membrane proteins in sera of patients with primary biliary cirrhosis
✍ Hideo Ishii; Koji Saifuku; Professor Toshihiko Namihisa πŸ“‚ Article πŸ“… 1987 πŸ› John Wiley and Sons 🌐 English βš– 362 KB πŸ‘ 1 views

Antimitochondrial antibodies are characteristically detected in sera of patients with primary biliary cirrhosis. The antigens to which the antimitochondrial antibodies in primary biliary cirrhosis sera react have been located in the mitochondrial inner membrane. We have reported on four mitochondria