Found: 43
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Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Early onset collagen VI myopathies: Genetic and clinical correlations.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 4, p. 511, doi. 10.1002/ana.22087
- By:
- Publication type:
- Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Publication type:
- Article
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 4, p. 340, doi. 10.1002/ana.21089
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- Publication type:
- Article
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
- Published in:
- 2007
- By:
- Publication type:
- journal article
SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 3, p. 546
- By:
- Publication type:
- Article
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 190, doi. 10.1002/ana.20705
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- Publication type:
- Article
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 537
- By:
- Publication type:
- Article
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 1, p. 299, doi. 10.1002/ppul.25142
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- Publication type:
- Article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
- By:
- Publication type:
- Article
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2155, doi. 10.1002/acn3.51889
- By:
- Publication type:
- Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/2051-5960-2-44
- By:
- Publication type:
- Article
Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.909715
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- Publication type:
- Article
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 647, doi. 10.1038/ejhg.2010.256
- By:
- Publication type:
- Article
Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.
- Published in:
- Archives of Orthopaedic & Trauma Surgery, 2023, v. 143, n. 8, p. 4605, doi. 10.1007/s00402-022-04727-4
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- Publication type:
- Article
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 425, doi. 10.3233/JND-230122
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- Publication type:
- Article
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 1, p. 329, doi. 10.1007/s10072-022-06403-2
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- Publication type:
- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
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- Publication type:
- Article
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4473, doi. 10.1093/hmg/dds289
- By:
- Publication type:
- Article
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11534, doi. 10.1038/ncomms11534
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- Publication type:
- Article
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0121799
- By:
- Publication type:
- Article
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
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- Publication type:
- Article
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 1, p. 5, doi. 10.3390/diagnostics10010005
- By:
- Publication type:
- Article
Natural history of pulmonary function in collagen VI-related myopathies.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Response to letter from Bernardi.
- Published in:
- 2009
- By:
- Publication type:
- Letter
The value of respiratory muscle testing in a child with congenital muscular dystrophy.
- Published in:
- Respirology Case Reports, 2014, v. 2, n. 3, p. 95, doi. 10.1002/rcr2.61
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- Publication type:
- Article
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0
- By:
- Publication type:
- Article
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
- By:
- Publication type:
- Article
Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 333, doi. 10.1007/s10048-021-00668-z
- By:
- Publication type:
- Article
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 27, doi. 10.1007/s10048-003-0165-9
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- Publication type:
- Article
Le registre national SMA France : des résultats déjà encourageants.
- Published in:
- Médecine Sciences, 2021, v. 37, p. 25, doi. 10.1051/medsci/2021187
- By:
- Publication type:
- Article
Trachéotomie et myopathie: Histoire d'une rencontre.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 11, doi. 10.1051/medsci/201733s103
- By:
- Publication type:
- Article
Orientation diagnostique d’un cas de « Rigid spine » familial par IRM musculaire corps entier
- Published in:
- Médecine Sciences, 2016, v. 32, p. 14, doi. 10.1051/medsci/201632s205
- By:
- Publication type:
- Article
Les explorations des muscles respiratoires sont-elles utiles pour poser l'indication d'une étude du sommeil chez l'enfant neuromusculaire ?
- Published in:
- Médecine Sciences, 2015, v. 31, p. 14, doi. 10.1051/medsci/201531s304
- By:
- Publication type:
- Article
EMG and nerve conduction studies in children with congenital muscular dystrophy.
- Published in:
- Muscle & Nerve, 2004, v. 29, n. 2, p. 292, doi. 10.1002/mus.10544
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- Publication type:
- Article