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Test–retest reliability and follow‐up of muscle magnetic resonance elastography in adults with and without muscle diseases.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2024, v. 15, n. 5, p. 1761, doi. 10.1002/jcsm.13528
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- Publication type:
- Article
A PATIENT WITH NEONATAL CHOLESTASIS.
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- Journal of Mother & Child, 2020, v. 24, n. 4, p. 31, doi. 10.34763/jmotherandchild.20202404.d-20-00012
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- Publication type:
- Article
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 618, doi. 10.1007/s00439-005-0077-x
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- Publication type:
- Article
Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP).
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170583
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- Publication type:
- Article
Recommendations for the management of myasthenia gravis in Belgium.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 4, p. 1371, doi. 10.1007/s13760-024-02552-7
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- Publication type:
- Article
A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 3, p. 1029, doi. 10.1007/s13760-023-02188-z
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- Publication type:
- Article
Myositis as a neuromuscular complication of immune checkpoint inhibitors.
- Published in:
- Acta Neurologica Belgica, 2020, v. 120, n. 2, p. 355, doi. 10.1007/s13760-020-01282-w
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- Publication type:
- Article
Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment.
- Published in:
- 2019
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- Publication type:
- Letter
Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients.
- Published in:
- Acta Neurologica Belgica, 2019, v. 119, n. 1, p. 29, doi. 10.1007/s13760-019-01093-8
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- Publication type:
- Article
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
- Published in:
- 2020
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- Publication type:
- journal article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 276
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- Publication type:
- Article
Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix.
- Published in:
- European Journal of Medical Research, 2017, v. 22, p. 1, doi. 10.1186/s40001-017-0279-4
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- Publication type:
- Article
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03156-3
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- Publication type:
- Article
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
- Published in:
- Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160
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- Publication type:
- Article
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
- Published in:
- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00169-w
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- Publication type:
- Article
Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1241, doi. 10.1002/acn3.51625
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- Publication type:
- Article
Serum neurofilament heavy chains as early marker of motor neuron degeneration.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1971, doi. 10.1002/acn3.50890
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- Publication type:
- Article
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
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- Brain & Behavior, 2016, v. 6, n. 4, p. n/a, doi. 10.1002/brb3.451
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- Publication type:
- Article
Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 9, p. N.PAG, doi. 10.3390/cells11091508
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- Publication type:
- Article
Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 3, p. 334, doi. 10.3390/cells11030334
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- Publication type:
- Article
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
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- Journal of Neurochemistry, 2017, v. 143, n. 5, p. 507, doi. 10.1111/jnc.14217
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- Publication type:
- Article
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
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- Acta Neuropathologica, 2019, v. 138, n. 3, p. 477, doi. 10.1007/s00401-019-02034-8
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- Publication type:
- Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
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- Publication type:
- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
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- Publication type:
- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
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- Publication type:
- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
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- Publication type:
- journal article
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 7, p. 986, doi. 10.1007/s00415-008-0808-8
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- Publication type:
- Article
Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02765-3
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- Publication type:
- Article
Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient‐reported outcome measures.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16282
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- Publication type:
- Article
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
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- European Journal of Neurology, 2022, v. 29, n. 1, p. 345, doi. 10.1111/ene.15091
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- Publication type:
- Article
Neuropathy of the phrenic nerve associated with antiganglioside antibodies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 6, p. 2138, doi. 10.1111/ene.14814
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- Publication type:
- Article
Congenital myopathies: an update.
- Published in:
- Developmental Medicine & Child Neurology, 2020, v. 62, n. 3, p. 297, doi. 10.1111/dmcn.14365
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- Publication type:
- Article
Congenital myopathies: an update.
- Published in:
- 2019
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- Publication type:
- journal article
Mitochondrial abnormalities in myofibrillar myopathies.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 2, p. 134, doi. 10.5414/NP300693
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- Publication type:
- Article
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4224, doi. 10.1093/hmg/ddt274
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- Publication type:
- Article
Small fiber involvement is independent from clinical pain in late-onset Pompe disease.
- Published in:
- 2022
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- Publication type:
- journal article
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
- Published in:
- 2016
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- Publication type:
- case study
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).
- Published in:
- 2016
- By:
- Publication type:
- journal article
Attention to 3-D Shape, 3-D Motion, and Texture in 3-D Structure from Motion Displays.
- Published in:
- Journal of Cognitive Neuroscience, 2004, v. 16, n. 4, p. 665, doi. 10.1162/089892904323057371
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- Publication type:
- Article
Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2023, v. 14, n. 3, p. 1468, doi. 10.1002/jcsm.13234
- By:
- Publication type:
- Article
Color Discrimination Involves Ventral and Dorsal Stream Visual Areas.
- Published in:
- Cerebral Cortex, 2004, v. 14, n. 7, p. 803, doi. 10.1093/cercor/bhh040
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- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Publication type:
- Article
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
- Published in:
- 2019
- By:
- Publication type:
- letter
Regional variation of Guillain-Barré syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Hot-spot KIF5A mutations cause familial ALS.
- Published in:
- 2018
- By:
- Publication type:
- journal article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1741, doi. 10.1093/brain/awp115
- By:
- Publication type:
- Article
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
- Published in:
- Human Mutation, 2006, v. 27, n. 9, p. 914, doi. 10.1002/humu.20350
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- Publication type:
- Article
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
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- Publication type:
- Article