Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

× No keyword cloud information.

5 in total

Review 1. Autophagic vacuolar myopathy.

Authors: Ichizo Nishino
Journal: Semin Pediatr Neurol Date: 2006-06 Impact factor: 1.636

2. Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).

Authors: M Villanova; C Ceuterick; M T Dotti; F M Santorelli; C Casali; A Malandrini; N De Stefano; U Lübke; J J Martin; G C Guazzi; A Federico
Journal: Acta Neuropathol Date: 1999-07 Impact factor: 17.088

3. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.

Authors: Yi Cao; Janice A Espinola; Elisa Fossale; Ashish C Massey; Ana Maria Cuervo; Marcy E MacDonald; Susan L Cotman
Journal: J Biol Chem Date: 2006-05-19 Impact factor: 5.157

4. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Authors: Jake N Miller; Chun-Hung Chan; David A Pearce
Journal: Hum Mol Genet Date: 2013-03-28 Impact factor: 6.150

5. Novel CLN3 mutation causing autophagic vacuolar myopathy.

Authors: Andrea Cortese; Arianna Tucci; Giovanni Piccolo; Carlo A Galimberti; Pietro Fratta; Enrico Marchioni; Gianpiero Grampa; Cristina Cereda; Gaetano Grieco; Ivana Ricca; Alan Pittman; Patrizia Ciscato; Laura Napoli; Valeria Lucchini; Michela Ripolone; Raffaella Violano; Gigliola Fagiolari; Sara E Mole; John Hardy; Arrigo Moglia; Maurizio Moggio
Journal: Neurology Date: 2014-05-14 Impact factor: 9.910

5 in total