979 results on '"Udd B"'
Search Results
102. Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patients
103. Expanding importance of HMERF titinopathy: new mutations and clinical aspects
104. A possible new phenotype associated with variants in COL6A2 gene
105. Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy
106. Clinical characterisation of a large international congenital titinopathy cohort
107. Association study reveals novel risk loci for sporadic inclusion body myositis
108. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
109. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
110. Microarray-based profiling of gene expression changes in myotonic dystrophy (DM1): evidence for a global defect in RNA metabolism
111. Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
112. Tibial muscular dystrophy - haplotype analysis of 150 Finnish patients and physical region of chromosome 2q31
113. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy
114. Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders
115. Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods
116. Association study reveals novel genetic risk factors associated with sporadic inclusion body myositis
117. Titinopathies – Establishment of an international database of TTN mutations and their phenotypes
118. Two novel BICD2 mutations occurring de novo in sporadic Finnish SMALED2 patients
119. DM2-linked myopathy caused by uninterrupted short (CCTG)50–70 repeat expansion in CNBP
120. Neuromyopathy with cataracts and glaucoma: A novel syndrome caused by recessive mutations in POLG1
121. Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD
122. Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement
123. Comprehensive analysis of TTN coding regions in myopathic patients: Challenges and opportunities
124. The genetic panorama in titin gene by re-sequencing projects
125. Novel homozygosity of c.1508insC mutation in DOK7 causes congenital myasthenia with variable severity
126. A new phenotype of RYR1-myopathy: Mild dominant calf myopathy with core pathology
127. Expression of multisystem proteinopathy (MSP) proteins in rimmed vacuolated fibers of tibial muscular dystrophy – Distal titinopathy
128. Complex processing of titin C-terminus by alternative cleavage of the is7 domain
129. A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy
130. GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology
131. G.P.233: Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy
132. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
133. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
134. Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy.
135. A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)
136. A novel mutation in DNAJB6 causes LGMD1D in two French families
137. Occurrence of CHCHD10 mutations in Finnish patients with motor neuron disorder
138. Muscle MRI findings in myopathies due to FHL1 mutation
139. Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy
140. A Finnish mutation in SCN4A gene causes predominantly myalgic phenotype
141. Overlap laminopathy with mild neurogenic atrophy and overt muscular dystrophy
142. Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation
143. Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
144. The FINmaj mutation in TTN induces the loss of several protein domains from titin C-terminus
145. New SCN4A mutations – unusual clinical phenotypes
146. Complex relationship between calpain 3 and titin
147. Differential isoform expression and selective muscle involvement in muscular dystrophies
148. Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality
149. Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy
150. When myopathy breaks the rules: a late-onset distal presentation
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