✦ LIBER ✦

Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

✍ Scribed by Yiş, Uluç; Uyanik, Gökhan; Rosendahl, Deborah Morris; Çarman, Kürşat Bora; Bayram, Erhan; Heise, Marisol; Cömertpay, Gamze; Kurul, Semra Hız

Book ID: 121784218
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 426 KB
Volume: 50
Category: Article
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2014.01.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

NMP029 Serial fetal and postnatal magnet

NMP029 Serial fetal and postnatal magnetic resonance imaging in a patient with Muscle Eye Brain disease with confirmed mutation in the POMGnT1 gene

✍ A. Klein; E. Boltshauser; R. Mein; E. Clement; A. Solopova; T.A.G.M. Huisman 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 44 KB

Muscle imaging analogies in a cohort of

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

✍ Nicola Carboni; Marco Mura; Giovanni Marrosu; Eleonora Cocco; Stefano Marini; El 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB

## Abstract Laminopathies are a heterogeneous group of __LMNA__‐gene‐mutation–related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging. Leg muscle imaging investigations were performed in a cohort of patients

Clinical, electrophysiological and patho

Clinical, electrophysiological and pathological findings in a patient with Charcot–Marie–Tooth disease 4D caused by the NDRG1 Lom mutation

✍ Luigetti, Marco; Taroni, Franco; Milani, Micaela; Del Grande, Alessandra; Romano 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 457 KB

Extracellular matrix and nuclear abnorma

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker–Warburg syndrome caused by POMT1 mutation

✍ Patrizia Sabatelli; Marta Columbaro; Isabella Mura; Cristina Capanni; Giovanna L 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 520 KB

P3.41. Clinical and genetic findings in

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

✍ A. Klein; S. Lillis; I. Oprea; M. Scoto; S. Robb; A. Manzur; V. Straub; H. Roper 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 49 KB

Comprehensive genetic analyses of PLP1 i

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

✍ Keiko Shimojima; Takehiko Inoue; Ai Hoshino; Satsuki Kakiuchi; Yoshiaki Watanabe 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 673 KB