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Laura Feltri: In memoriam.
- Published in:
- 2024
- By:
- Publication type:
- Obituary
Loss of function MPZ mutation causes milder CMT1B neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 177, doi. 10.1111/jns.12452
- By:
- Publication type:
- Article
Editorial: Current Insights Into LAMA2 Disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.780635
- By:
- Publication type:
- Article
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 57, doi. 10.36185-2532-1900-008
- By:
- Publication type:
- Article
α6β4 Integrin and Dystroglycan Cooperate to Stabilize the Myelin Sheath.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 26, p. 6714, doi. 10.1523/JNEUROSCI.0326-08.2008
- By:
- Publication type:
- Article
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 766, doi. 10.1038/ejhg.2014.168
- By:
- Publication type:
- Article
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
- By:
- Publication type:
- Article
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 806, doi. 10.1093/brain/awac452
- By:
- Publication type:
- Article
Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 8, p. 607, doi. 10.1002/acn3.319
- By:
- Publication type:
- Article
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00255
- By:
- Publication type:
- Article
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00255
- By:
- Publication type:
- Article
Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1470, doi. 10.15252/emmm.201607129
- By:
- Publication type:
- Article
Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 12, p. 1513, doi. 10.15252/emmm.201505636
- By:
- Publication type:
- Article
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
- By:
- Publication type:
- Article
Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic.
- Published in:
- BMC Psychology, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40359-024-01742-5
- By:
- Publication type:
- Article
Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.702547
- By:
- Publication type:
- Article
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5561, doi. 10.1007/s00415-023-11911-y
- By:
- Publication type:
- Article
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 1, p. 394, doi. 10.1007/s00415-022-11365-8
- By:
- Publication type:
- Article
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 9, p. 4884, doi. 10.1007/s00415-022-11133-8
- By:
- Publication type:
- Article
Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 8, p. 2123, doi. 10.1002/acn3.52133
- By:
- Publication type:
- Article
Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032059
- By:
- Publication type:
- Article
Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration.
- Published in:
- Journal of Pathology, 2013, v. 231, n. 2, p. 190, doi. 10.1002/path.4228
- By:
- Publication type:
- Article
Prostaglandin D2 synthase modulates macrophage activity and accumulation in injured peripheral nerves.
- Published in:
- Glia, 2020, v. 68, n. 1, p. 95, doi. 10.1002/glia.23705
- By:
- Publication type:
- Article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
- By:
- Publication type:
- Article
Alteration of the late endocytic pathway in Charcot–Marie–Tooth type 2B disease.
- Published in:
- Cellular & Molecular Life Sciences, 2021, v. 78, n. 1, p. 351, doi. 10.1007/s00018-020-03510-1
- By:
- Publication type:
- Article
Matrix metalloproteinase-2 is involved in myelination of dorsal root ganglia neurons.
- Published in:
- Glia, 2009, v. 57, n. 5, p. 479, doi. 10.1002/glia.20774
- By:
- Publication type:
- Article
Laminin receptor α6β4 integrin is highly expressed in ENU-induced glioma in rat.
- Published in:
- Glia, 1999, v. 26, n. 1, p. 55, doi. 10.1002/(SICI)1098-1136(199903)26:1<55::AID-GLIA6>3.0.CO;2-1
- By:
- Publication type:
- Article
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78578-7
- By:
- Publication type:
- Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Expression of Laminin Receptors in Schwann Cell Differentiation: Evidence for Distinct Roles.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 13, p. 5520, doi. 10.1523/JNEUROSCI.23-13-05520.2003
- By:
- Publication type:
- Article
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0220714
- By:
- Publication type:
- Article
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
- Published in:
- PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218683
- By:
- Publication type:
- Article
Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.
- Published in:
- Human Brain Mapping, 2014, v. 35, n. 2, p. 513, doi. 10.1002/hbm.22198
- By:
- Publication type:
- Article
Expanding the central nervous system disease spectrum associated with FLNC mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Motor nerve biopsy: Clinical usefulness and histopathological criteria.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 1, p. 197, doi. 10.1002/ana.22110
- By:
- Publication type:
- Article
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.
- Published in:
- PLoS Biology, 2016, v. 14, n. 4, p. 1, doi. 10.1371/journal.pbio.1002440
- By:
- Publication type:
- Article
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 14, p. 1713, doi. 10.1093/hmg/ddg179
- By:
- Publication type:
- Article
Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 8, p. 2461, doi. 10.1111/ene.15860
- By:
- Publication type:
- Article
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 3, p. 710, doi. 10.1111/ene.15643
- By:
- Publication type:
- Article
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 2, p. 511, doi. 10.1111/ene.15601
- By:
- Publication type:
- Article