Pages that link to "Q30169368"
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The following pages link to Heinz Jungbluth (Q30169368):
Displaying 50 items.
- Pathogenic mechanisms in centronuclear myopathies (Q21131067) (← links)
- Central core disease (Q21202972) (← links)
- Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Q22676705) (← links)
- Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies (Q24617292) (← links)
- Genetic disorders of thyroid metabolism and brain development (Q26858956) (← links)
- Approach to the diagnosis of congenital myopathies (Q26999314) (← links)
- Vici syndrome: a review (Q28068922) (← links)
- Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia (Q28280670) (← links)
- Epigenetic changes as a common trigger of muscle weakness in congenital myopathies (Q29977760) (← links)
- Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. (Q30168391) (← links)
- Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. (Q30438813) (← links)
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (Q30444380) (← links)
- Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy (Q33957091) (← links)
- Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. (Q34174854) (← links)
- Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. (Q34334565) (← links)
- Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies (Q34776066) (← links)
- Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. (Q35104636) (← links)
- Rhabdomyolysis: a genetic perspective. (Q35908344) (← links)
- Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease (Q36035749) (← links)
- Clinical utility gene card for: Centronuclear and myotubular myopathies (Q36253416) (← links)
- Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. (Q36611392) (← links)
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy (Q36615500) (← links)
- Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy (Q36842582) (← links)
- Multi-minicore Disease (Q36881612) (← links)
- The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility (Q37098883) (← links)
- Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. (Q37394678) (← links)
- Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? (Q37425723) (← links)
- Consensus statement on standard of care for congenital myopathies (Q37585735) (← links)
- Ophthalmologic features of Vici syndrome (Q38208035) (← links)
- Severe Central Sleep Apnea in Vici Syndrome. (Q38611509) (← links)
- Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism (Q38682634) (← links)
- Myopathology in times of modern imaging (Q38767197) (← links)
- Current and future therapeutic approaches to the congenital myopathies. (Q38832207) (← links)
- Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. (Q38840808) (← links)
- Congenital myopathies: not only a paediatric topic. (Q38930949) (← links)
- RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction (Q38962973) (← links)
- Characterization of recessive RYR1 mutations in core myopathies (Q40238382) (← links)
- Clinical utility gene card for: Multi-minicore disease. (Q40492542) (← links)
- Clinical utility gene card for: Central core disease (Q40492722) (← links)
- Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? (Q41438850) (← links)
- Clinical utility gene card for: Vici Syndrome. (Q41957120) (← links)
- The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy (Q42450638) (← links)
- Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases (Q42864222) (← links)
- RYR1 mutations are a common cause of congenital myopathies with central nuclei (Q42908171) (← links)
- Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. (Q42972498) (← links)
- White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene (Q43265524) (← links)
- Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (Q44075701) (← links)
- Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy. (Q44178340) (← links)
- Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group. (Q44615844) (← links)
- Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations (Q45162883) (← links)