✦ LIBER ✦

Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome

✍ Scribed by Ponjavic, Vesna ;Andreasson, Sten ;Tranebjaerg, Lisbeth ;Lubs, Herbert A.

Book ID: 114785415
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 648 KB
Volume: 74
Category: Article
ISSN: 1395-3907
DOI: 10.1111/j.1600-0420.1996.tb00751.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Full-field electroretinograms in individ

Full-field electroretinograms in individuals with the Laurence-Moon-Bardet-Biedl syndrome

✍ Riise, Ruth ;Andréasson, Sten ;Tornqvist, Krishna 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 354 KB

G.P.18.05 Myopathy and retinopathy are n

G.P.18.05 Myopathy and retinopathy are novel features in a patient with Mohr-Tranebjaerg syndrome

✍ M. Bellan; C. La Morgia; R. Liguori; M. Villanova; R. Carroccia; P. Avoni; P. Ba 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 45 KB

Molecular Genetics of a Patient with Moh

Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene

✍ José Rafael Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José H 📂 Article 📅 2007 🏛 Humana Press Inc 🌐 English ⚖ 286 KB

Full-field electroretinogram in a patien

Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy

✍ Dr. Sten Andréasson; Vesna Ponjavic; Berndt Ehinger 📂 Article 📅 2009 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 294 KB

Blepharospasm and limb dystonia caused b

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

✍ Hee T. Kim; Mark J. Edwards; Jess Tyson; Niall P. Quinn; Maria Bitner-Glindzicz; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

## Abstract Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (__DDP1__) gene. We describe a sporadic 42‐year‐old man with

A novel mutation in the gene encoding TI

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

✍ Luis A. Aguirre; Ignacio del Castillo; Alfons Macaya; Carme Medá; Manuela Villam 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 2 views