Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

10.1016/j.nmd.2016.06.305 ◽

2016 ◽

Vol 26 ◽

pp. S170

Author(s):

G. Diniz ◽

Y. Secil ◽

S. Ceylaner ◽

F. Tokucoglu ◽

S. Ture ◽

...

Keyword(s):

Inclusion Body ◽

Novel Mutation ◽

Inclusion Body Myopathy ◽

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)

Gene Regulation and Systems Biology ◽

10.4137/grsb.s728 ◽

2008 ◽

Vol 2 ◽

pp. GRSB.S728 ◽

Cited By ~ 1

Author(s):

Chris Jay ◽

Gregory Nemunaitis ◽

John Nemunaitis ◽

Neil Senzer ◽

Stephan Hinderlich ◽

...

Keyword(s):

Inclusion Body ◽

Inclusion Body Myopathy ◽

560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy

Molecular Therapy ◽

10.1016/j.ymthe.2006.08.633 ◽

2006 ◽

Vol 13 ◽

pp. S215-S216

Author(s):

Phillip B. Maples ◽

Daniel Darvish ◽

Gregory Nemunaitis ◽

Esther Chang ◽

Julie Ogden ◽

...

Keyword(s):

Inclusion Body ◽

Gene Replacement ◽

Inclusion Body Myopathy ◽

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

10.1016/s0960-8966(03)00140-8 ◽

2003 ◽

Vol 13 (10) ◽

pp. 830-834 ◽

Cited By ~ 46

Author(s):

Sabine Krause ◽

Beate Schlotter-Weigel ◽

Maggie C. Walter ◽

Hossein Najmabadi ◽

Heinz Wiendl ◽

...

Keyword(s):

Missense Mutation ◽

Inclusion Body ◽

Inclusion Body Myopathy ◽

Muscle Inflammation ◽

Homozygous Missense Mutation ◽

Quadriceps Sparing ◽

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

The Journal of Gene Medicine ◽

10.1002/jgm.1450 ◽

2010 ◽

Vol 12 (5) ◽

pp. 403-412 ◽

Cited By ~ 18

Author(s):

Gregory Nemunaitis ◽

Phillip B. Maples ◽

Chris Jay ◽

William A. Gahl ◽

Marjan Huizing ◽

...

Keyword(s):

Inclusion Body ◽

Single Patient ◽

Patient Response ◽

Inclusion Body Myopathy ◽

PONM14 A novel homozygous missense mutation in the GNE gene of two brothers with hereditary inclusion body myopathy type 2

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.2010.226340.187 ◽

2010 ◽

Vol 81 (11) ◽

pp. e64-e64

Author(s):

U. M. Sheerin ◽

R. J. M. Lane ◽

W. Rakowicz ◽

F. Roncaroli

Keyword(s):

Missense Mutation ◽

Inclusion Body ◽

Inclusion Body Myopathy ◽

Homozygous Missense Mutation ◽

Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex

Human Gene Therapy ◽

10.1089/hum.2010.192 ◽

2011 ◽

Vol 22 (11) ◽

pp. 1331-1341 ◽

Cited By ~ 30

Author(s):

Gregory Nemunaitis ◽

Chris M. Jay ◽

Phillip B. Maples ◽

William A. Gahl ◽

Marjan Huizing ◽

...

Keyword(s):

Inclusion Body ◽

Single Patient ◽

Patient Response ◽

Inclusion Body Myopathy ◽

Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment

Muscle Aging, Inclusion-Body Myositis and Myopathies ◽

10.1002/9781444398311.ch11 ◽

2011 ◽

pp. 175-190

Author(s):

May Christine V. Malicdan ◽

Satoru Noguchi ◽

Ichizo Nishino

Keyword(s):

Animal Models ◽

Inclusion Body ◽

Distal Myopathy ◽

Potential Treatment ◽

Rimmed Vacuoles ◽

Inclusion Body Myopathy ◽

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

10.1016/j.nmd.2010.02.013 ◽

2010 ◽

Vol 20 (5) ◽

pp. 335-336 ◽

Cited By ~ 8

Author(s):

Andrea Stober ◽

Angelo Aleo ◽

Valerio Kuhl ◽

Antje Bornemann ◽

Maggie C. Walter ◽

...

Keyword(s):

Missense Mutation ◽

Inclusion Body ◽

Autosomal Recessive ◽

Distal Myopathy ◽

Rimmed Vacuoles ◽

Inclusion Body Myopathy ◽

Italian Family ◽

P4.47 Hereditary inclusion body myopathy therapy: Assessment of an adeno associated virus AAV2/8 based GNE gene delivery system

10.1016/j.nmd.2011.06.1012 ◽

2011 ◽

Vol 21 (9-10) ◽

pp. 718

Author(s):

S. Mitrani-Rosenbaum ◽

L. Yakovlev ◽

M. Becker-Cohen ◽

Y. Felig ◽

Z. Argov ◽

...

Keyword(s):

Gene Delivery ◽

Inclusion Body ◽

Delivery System ◽

Gene Delivery System ◽

Adeno Associated Virus ◽

Inclusion Body Myopathy ◽

Therapy Assessment ◽