Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8

Progressive Myoclonus Epilepsy ◽

Myoclonus Epilepsy

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2

PLoS ONE ◽

10.1371/journal.pone.0083777 ◽

2013 ◽

Vol 8 (12) ◽

pp. e83777 ◽

Cited By ~ 18

Author(s):

Rosanna Cardani ◽

Enrico Bugiardini ◽

Laura V. Renna ◽

Giulia Rossi ◽

Graziano Colombo ◽

...

Keyword(s):

Skeletal Muscle ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

G.P.14.14 Differences in aberrant expression and splicing of genes involved in Ca2+ metabolism between myotonic dystrophy type 2 (DM2) and type 1 (DM1)

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.06.323 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 858

Author(s):

A. Vihola ◽

M. Sirito ◽

L. Bachinski ◽

S. Olufemi ◽

O. Raheem ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Aberrant Expression

P10.4 Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) α1s subunit (Cav1.1) pre-mRNA splicing and correlation with intracellular calcium signals in myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) myotubes

Clinical Neurophysiology ◽

10.1016/s1388-2457(11)60371-4 ◽

2011 ◽

Vol 122 ◽

pp. S105

Author(s):

M. Santoro ◽

R. Piacentini ◽

M. Masciullo ◽

C. Grassi ◽

A. Modoni ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Mrna Splicing ◽

Myotonic Dystrophy Type ◽

Calcium Signals ◽

Voltage Gated ◽

Ryanodine Receptor 1

P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population

Neuromuscular Disorders ◽

10.1016/j.nmd.2010.07.104 ◽

2010 ◽

Vol 20 (9-10) ◽

pp. 628

Author(s):

T. Suominen ◽

L.L. Bachinski ◽

S. Auvinen ◽

P. Hackman ◽

C. Angelini ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

G.P.14.06 Sleep disturbances in myotonic dystrophy type 2: A comparison with myotonic dystrophy type 1 and healthy controls

Neuromuscular Disorders ◽

10.1016/j.nmd.2009.06.313 ◽

2009 ◽

Vol 19 (8-9) ◽

pp. 645

Author(s):

A.A. Tieleman ◽

H. Knoop ◽

A. van de Logt ◽

G. Bleijenberg ◽

B.G.M. van Engelen ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Sleep Disturbances ◽

Healthy Controls ◽

Myotonic Dystrophy Type ◽

Does quantitative EMG differ myotonic dystrophy type 2 and type 1?

Journal of Electromyography and Kinesiology ◽

10.1016/j.jelekin.2014.05.012 ◽

2014 ◽

Vol 24 (5) ◽

pp. 755-761 ◽

Cited By ~ 3

Author(s):

Elzbieta Szmidt-Salkowska ◽

Malgorzata Gawel ◽

Anna Lusakowska ◽

Monika Nojszewska ◽

Marta Lipowska ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Quantitative Emg

Brain1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1

Muscle & Nerve ◽

10.1002/mus.20565 ◽

2006 ◽

Vol 34 (2) ◽

pp. 145-152 ◽

Cited By ~ 21

Author(s):

Stefan Vielhaber ◽

Sibylle Jakubiczka ◽

Charly Gaul ◽

Mircea Ariel Schoenfeld ◽

Grazyna Debska-Vielhaber ◽

...

Keyword(s):

Magnetic Resonance ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2

Frontiers in Neurology ◽

10.3389/fneur.2019.00992 ◽

2019 ◽

Vol 10 ◽

Cited By ~ 2

Author(s):

Francesca Bosè ◽

Laura Valentina Renna ◽

Barbara Fossati ◽

Giovanni Arpa ◽

Valentina Labate ◽

...

Keyword(s):

Skeletal Muscle ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Cardiac Biomarker

No association of the SCA1 (CAG)31 allele with Huntington’s disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

Psychiatric Genetics ◽

10.1097/01.ypg.0000128763.69225.77 ◽

2004 ◽

Vol 14 (2) ◽

pp. 61-63 ◽

Cited By ~ 1

Author(s):

Yorck Hellenbroich ◽

Manuel Kaulich ◽

Sven Opitz ◽

Eberhard Schwinger ◽

Christine Zühlke

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Myotonic Dystrophy ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Myotonic Dystrophy Type ◽

Spinocerebellar Ataxia Type 3 ◽

Type 3

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2)

Experimental and Molecular Pathology ◽

10.1016/j.yexmp.2010.05.007 ◽

2010 ◽

Vol 89 (2) ◽

pp. 158-168 ◽

Cited By ~ 11

Author(s):

Massimo Santoro ◽

Anna Modoni ◽

Marcella Masciullo ◽

Teresa Gidaro ◽

Aldobrando Broccolini ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Adult Onset ◽

Pathological Features ◽