Disease: Arthrogryposis spinal muscular atrophy
- 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands)
- A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia
- A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4
- A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
- A case of spinal muscular atrophy type 0 in Japan
- A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2
- A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1
- A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy
- A novel Xp11.22-22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
- Acquired motor neuron loss causing severe pelvic limb contractures in a young cat
- An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
- Arthrogryposis
- Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene
- Arthrogryposis multiplex congenita--spinal muscular atrophy association
- Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
- Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
- Bilateral rib-to-pelvis Eiffel Tower VEPTR construct for children with neuromuscular scoliosis: a preliminary report
- Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype
- Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
- Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings
- Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1
- Comparative FISH-mapping of the survival of motor neuron gene (SMN) in domestic bovids
- Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves
- Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs
- Congenital segmental spinal muscular atrophy: a case report
- De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
- Diaphragmatic spinal muscular atrophy with bulbar weakness
- Dominant congenital benign spinal muscular atrophy
- Early fetal akinesia deformation sequence: a case report with unusual autoptic features
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
- Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
- Electromyography (EMG) accuracy compared to muscle biopsy in childhood
- Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy
- Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum
- Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital
- Familial diseases revealed by a fetal anomaly
- Familial pontocerebellar hypoplasia type I with anterior horn cell disease
- Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy
- Genetic testing and risk assessment for spinal muscular atrophy (SMA)
- Growth modulation in operative treatment of juvenile scoliosis by USS paediatric
- Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses
- Homozygous <em>TRPV4</em> mutation causes congenital distal spinal muscular atrophy and arthrogryposis
- Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report
- Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
- Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy
- In-frame de novo mutation in <em>BICD2</em> in two patients with muscular atrophy and arthrogryposis
- In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
- Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
- Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy
- Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease
- Lethal arthrogryposis with anterior horn cell disease
- Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus
- Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24
- Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
- Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene
- Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy
- Monozygotic twins with fetal akinesia: the importance of clinicopathological work-up in predicting risks of recurrence
- Muscle-Bone Interactions in Pediatric Bone Diseases
- Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
- Neurogenic arthrogryposis and the power of phenotyping
- Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2
- Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
- Pelvic fixation of growing rods: comparison of constructs
- Perosomus elumbis in Danish Holstein cattle
- Phenotype and genotype correlation in childhood spinal muscular atrophy
- Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
- Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
- Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
- Phenotypic variability of TRPV4 related neuropathies
- Prevention and management of limb contractures in neuromuscular diseases
- Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
- Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
- Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
- Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
- Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification
- Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset
- Severe lethal spinal muscular atrophy variant with arthrogryposis
- Severe spinal muscular atrophy variant associated with congenital bone fractures
- Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
- STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
- Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita
- Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese)
- Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
- Talectomy for the treatment of neglected pes equinovarus deformity in patients with neuromuscular involvement
- The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis
- The importance of managing the patient and not the gene: expanded phenotype of <em>GLE1</em>-associated arthrogryposis
- The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
- TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature
- Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
- Unilateral Shoulder Weakness and Visual Deformity in a Young Military Recruit
- Unusual clinical features in infantile Spinal Muscular Atrophies
- Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis
- Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2
- Wilmington robotic exoskeleton: a novel device to maintain arm improvement in muscular disease
- X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
- X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
- X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
- X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
- X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene