Pages that link to "Q56838398"
Jump to navigation
Jump to search
The following pages link to Nigel G Laing (Q56838398):
Displaying 50 items.
- Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy (Q22010602) (← links)
- Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia (Q24291173) (← links)
- Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene (Q24291196) (← links)
- Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms (Q24296959) (← links)
- Production of human skeletal alpha-actin proteins by the baculovirus expression system (Q24307514) (← links)
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy (Q24309236) (← links)
- Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization (Q24313577) (← links)
- Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 (Q24329180) (← links)
- Approach to the diagnosis of congenital myopathies (Q26999314) (← links)
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus (Q28087567) (← links)
- Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita (Q28115991) (← links)
- Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy (Q28118657) (← links)
- Nemaline myopathy: a clinical study of 143 cases (Q28216315) (← links)
- Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies (Q28237280) (← links)
- Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy (Q28252989) (← links)
- A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1 (Q28254193) (← links)
- K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity (Q28284847) (← links)
- Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2 (Q28298031) (← links)
- KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy (Q28585181) (← links)
- Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization (Q28771758) (← links)
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy (Q30090215) (← links)
- Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function (Q30661724) (← links)
- Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy (Q33439749) (← links)
- Inherited disorders of sarcomeric proteins (Q33790253) (← links)
- Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (Q33910216) (← links)
- A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies (Q33918958) (← links)
- Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (Q33952706) (← links)
- Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy (Q33957091) (← links)
- SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy (Q34030749) (← links)
- Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression (Q34103296) (← links)
- Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. (Q34174854) (← links)
- Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). (Q34223063) (← links)
- Nemaline myopathies. (Q34240917) (← links)
- Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. (Q34317105) (← links)
- Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an association with HLA-DR3. (Q34360671) (← links)
- Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores (Q34381793) (← links)
- Nemaline myopathy type 6: clinical and myopathological features (Q34676213) (← links)
- Clinical utility gene card for: Laing distal myopathy (Q34705337) (← links)
- Mutations in TPM3 are a common cause of congenital fiber type disproportion (Q34755501) (← links)
- Mutation update: the spectra of nebulin variants and associated myopathies (Q34973783) (← links)
- Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). (Q34989619) (← links)
- Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy (Q35040228) (← links)
- 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (Q35192303) (← links)
- Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy (Q35452187) (← links)
- Myopathies resulting from mutations in sarcomeric proteins (Q35887712) (← links)
- Clinical utility gene card for: Nemaline myopathy - update 2015. (Q36184586) (← links)
- Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth (Q36292736) (← links)
- Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred (Q36374006) (← links)
- Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (Q36615476) (← links)
- The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service (Q36994495) (← links)