𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Unusual phenotypic expression of the DYT1 mutation

✍ Scribed by Emilia Mabel Gatto; Manuel Marı́a Fernandez Pardal; Federico Eduardo Micheli

Book ID
117751863
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
82 KB
Volume
9
Category
Article
ISSN
1353-8020

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic expression of the DYT1 mutati
Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
✍ Dr. T. Gasser; K. Windgassen; B. Bereznai; C. Kabus; A. C. Ludolph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB

Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 pat

Singular DYT6 phenotypes in association
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
✍ Arnaud Blanchard; Agathe Roubertie; Marion Simonetta-Moreau; Vuthy Ea; Coline Co 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 486 KB

Celiac disease (CD), which is one of the most important malabsorptive diseases in adults, has been associated with several neurological disorders including peripheral neuropathy, cerebellar ataxia, myopathy, and attention deficit hyperactivity disorders. Recently, 2 independent studies 1,2 reported

Unusual phenotypes in DYT1 dystonia: A r
Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
✍ Mark Edwards; Nicholas Wood; Kailash Bhatia 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

## Abstract Since the advent of widespread testing for the presence of the DYT1 gene mutation, the range of phenotypes that have been associated with this genetic abnormality has expanded. We report on 5 DYT1 gene‐positive patients with unusual phenotypes. Two of them had late presentation, one of

Non-DYT1 early-onset primary torsion dys
Non-DYT1 early-onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
✍ Alfonso Fasano; Nardo Nardocci; Antonio Emanuele Elia; Giovanna Zorzi; Anna Rita 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB

## Abstract To investigate the clinical features of early‐onset primary torsion dystonia (EO‐PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and di

An unusual phenotypic expression of Hb-L
An unusual phenotypic expression of Hb-Leiden
✍ W. A. Schroeder; Darleen Powars; Joan B. Shelton; J. Roger Shelton; J. B. Wilson 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 574 KB

After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection kwith an oxidant drug, an extensive hematological examination was made. The important finding was the presence of lib-Leiden to the extent of less than 3% or about a tenth of the usual perc