Found: 10
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Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
- Published in:
- Neuropathology, 2008, v. 28, n. 3, p. 264, doi. 10.1111/j.1440-1789.2007.00871.x
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- Publication type:
- Article
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 42, doi. 10.3390/ijns9030042
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- Publication type:
- Article
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 1, p. 161, doi. 10.1002/ppul.26173
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- Publication type:
- Article
The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1676, doi. 10.1002/humu.23828
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- Publication type:
- Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554
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- Publication type:
- Article
Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 2, p. 250, doi. 10.1002/mus.24163
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- Publication type:
- Article
Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 4, p. 526, doi. 10.1002/mus.20941
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- Publication type:
- Article
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 3, p. 329, doi. 10.1002/ana.21308
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- Publication type:
- Article
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing-like attacks in a pediatric patient found to have a pontine capillary telangiectasia and developmental venous anomaly: A case report exploring the root of the problem.
- Published in:
- 2017
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- Publication type:
- journal article
Video-Assisted Thoracoscopic Thymectomy in Juvenile Myasthenia Gravis.
- Published in:
- Journal of Child Neurology, 2001, v. 16, n. 8, p. 569, doi. 10.2310/7010.2001.16842
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- Publication type:
- Article