DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
Margolis et al.
Hum Mol Genet 2006;15:1808-1815.
ABSTRACT
| FULL TEXT
Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2
George et al.
Arch Neurol 2004;61:1938-1942.
ABSTRACT
| FULL TEXT
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
Day et al.
Neurology 2003;60:657-664.
ABSTRACT
| FULL TEXT
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
Fardaei et al.
Hum Mol Genet 2002;11:805-814.
ABSTRACT
| FULL TEXT
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
Mankodi et al.
Hum Mol Genet 2001;10:2165-2170.
ABSTRACT
| FULL TEXT
Proximal Myotonic Myopathy: Clinical, Neuropathologic, and Molecular Genetic Features
Eisenschenk et al.
Annals of Clinical & Laboratory Science 2001;31:140-146.
ABSTRACT
| FULL TEXT
A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene
Nagamitsu et al.
Neurology 2000;55:1697-1703.
ABSTRACT
| FULL TEXT
Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q
Schneider et al.
Neurology 2000;55:383-388.
ABSTRACT
| FULL TEXT
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
Neurology 2000;54:1218-1221.
FULL TEXT
Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
Meola et al.
Neurology 1999;53:1042-1042.
ABSTRACT
| FULL TEXT
Brain Proton Magnetic Resonance Spectroscopy and Brain Atrophy in Myotonic Dystrophy
Akiguchi et al.
Arch Neurol 1999;56:325-330.
ABSTRACT
| FULL TEXT
Linkage of proximal myotonic myopathy to chromosome 3q
Ricker et al.
Neurology 1999;52:170-170.
ABSTRACT
| FULL TEXT
Cardiac involvement in proximal myotonic myopathy
von zur Mühlen et al.
Heart 1998;79:619-621.
ABSTRACT
| FULL TEXT
Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation
Mastaglia et al.
J. Neurol. Neurosurg. Psychiatry 1998;64:543-547.
ABSTRACT
| FULL TEXT
Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
Rowland
J Child Neurol 1998;13:122-132.
ABSTRACT
Myotonic Disorders in Childhood: Diagnosis and Treatment
Moxley
J Child Neurol 1997;12:116-129.
ABSTRACT