Disease: Arthrogryposis due to muscular dystrophy
- <em>Drosophila</em> Nesprin-1 Isoforms Differentially Contribute to Muscle Function
- "An autopsy case of severe congenital muscular dystrophy with arthrogryposis multiplex"
- 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands
- 2 cases of arthrogryposis
- A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie)
- A large inbred Palestinian family with two forms of muscular dystrophy
- A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis
- A neonatal case of congenital myotonic dystrophy
- A rare cause of polyhydramnios: Steinert's syndrome. A clinical case report
- A woman in her fifties with chronic muscle weakness
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
- Adult myotonic dystrophy type 1: an update
- Arthrogryposis
- Arthrogryposis multiplex congenita
- Arthrogryposis multiplex congenita: spectrum of pathologic changes
- Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
- Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
- Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
- Birth outcomes among women with congenital neuromuscular disabilities
- Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
- Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With <em>SYNE1</em> Mutation in a Chinese Family
- Cerebro-oculo-facio-skeletal syndrome: further delineation
- Characteristic clinical and ultrastructural findings in nesprinopathies
- Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
- Clinical effects of myotonic dystrophy on pregnancy and the neonate
- Clinical features for prediction of survival in neonatal muscle disease
- Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy
- Combined maternal and congenital myotonic dystrophy managed by a multidisciplinary team
- Congenital muscular dystrophies
- Congenital muscular dystrophy
- Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita
- Congenital muscular dystrophy with distinct CNS involvement
- Congenital myopathies
- Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence
- Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy
- Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
- Effects of Powerchair Football: Contextual Factors That Impact Participation
- Electromyography (EMG) accuracy compared to muscle biopsy in childhood
- Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics
- Expanding the Phenotypic Spectrum of <em>ECEL1</em>-Associated Distal Arthrogryposis
- Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis
- Experimental intrauterine infection of akabane virus. Pathological studies of skeletal muscles and central nervous system of newborn hamsters with relevances to the Fukuyama type congenital muscular dystrophy
- Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
- Features of progressive muscular dystrophy, infantile spinal muscular atrophy, and congenital multiple arthrogryposis
- Feeding and toileting devices for a child with arthrogryposis
- Genotype-phenotype correlations in recessive titinopathies
- Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
- Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
- Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
- Infantile form of muscle phosphofructokinase deficiency in a premature neonate
- Integrating the physically handicapped child
- Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?
- Length-dependent MRI of hereditary neuropathy with liability to pressure palsies
- Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years
- Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases
- Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
- Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature
- Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow
- Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases
- Merosin-positive congenital muscular dystrophy: a large inbred family
- Multi-minicore disease revisited
- Muscle disorders in childhood
- Muscle-Bone Interactions in Pediatric Bone Diseases
- Muscular dysgenesis in the mouse (mdg/mdg). I. Ultrastructural study of skeletal and cardiac muscle
- Myopathies with ocular symptoms
- Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles
- Myotonic dystrophy in pregnancy. Prenatal, neonatal and maternal considerations
- Myotonic dystrophy with pregnancy
- Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
- Neonatal dystrophia myotonica. Electrophysiologic studies
- Neonatal hypotonia
- Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings
- Neuromuscular disorders associated with apical hypertrophic cardiomyopathy
- Neuropathologic aspects of arthrogryposis multiplex congenita
- Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
- Orthopaedic abnormalities in primary myopathies
- Orthopaedics. 2. Telling them apart
- Panorama of the distal myopathies
- Paralytic deformities of the lower limb
- Phenotypic variability of TRPV4 related neuropathies
- Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant
- Pregnancy and delivery in a patient with myotonic dystrophy or Curschmann-Steinert diseases. Symptomatology in the newborn infant
- Prenatal diagnosis of congenital muscular dystrophy producing arthrogryposis
- Prevention and management of limb contractures in neuromuscular diseases
- Rare causes of scoliosis and spine deformity: experience and particular features
- Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
- Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
- Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
- Research progress of myosin heavy chain genes in human genetic diseases
- Rigid spine syndrome and its nosological borders. 2 cases
- Spinal form of Ullrich's disease in monozygotic twins
- Steinert's myotonic dystrophy: severe neonatal form with unknown family history
- Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita
- Subperiosteal new bone and callus formations in neonates with femoral shaft fracture at birth
- SYNE1-ataxia: Novel genotypic and phenotypic findings
- Teratogens associated with congenital contractures in humans and in animals
- The role of bilateral talectomy in the management of bilateral rigid clubfeet
- The role of the pediatrician in prescribing therapy services for children with motor disabilities. American Academy of Pediatrics Committee on Children With Disabilities
- The spectrum of arthrogryposis in 33 chinese children
- Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity