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Muscle MRI findings in facioscapulohumeral muscular dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal 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
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
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1438, doi. 10.15252/emmm.201606349
- 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
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
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
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
Foot pad skin biopsy in mouse models of hereditary neuropathy.
- Published in:
- Glia, 2010, v. 58, n. 16, p. 2005, doi. 10.1002/glia.21069
- 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
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
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
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
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
Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype.
- Published in:
- Journal of Molecular Neuroscience, 2015, v. 56, n. 1, p. 212, doi. 10.1007/s12031-014-0483-4
- By:
- Publication type:
- Article
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0055-5
- 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
Expanding the central nervous system disease spectrum associated with FLNC mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures.
- Published in:
- BMC Neurology, 2012, v. 12, n. 1, p. 91, doi. 10.1186/1471-2377-12-91
- By:
- Publication type:
- Article
P<sub>0</sub>- Cre Transgenic Mice for Inactivation of Adhesion Molecules in Schwann Cells.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 116, doi. 10.1111/j.1749-6632.1999.tb08574.x
- By:
- Publication type:
- Article
Peripheral Nerve Dysmyelination Due to P<sub>0</sub> Glycoprotein Overexpression Is Dose-Dependent.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 294, doi. 10.1111/j.1749-6632.1999.tb08591.x
- By:
- Publication type:
- Article
Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1237, doi. 10.3390/brainsci11091237
- By:
- Publication type:
- Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal 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
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
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 27, p. 8858, doi. 10.1523/JNEUROSCI.1423-09.2009
- 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 Mitochondrial Protease AFG3L2 Is Essential for Axonal Development.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 11, p. 2827, doi. 10.1523/JNEUROSCI.4677-07.2008
- By:
- Publication type:
- Article
Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 8, p. 2358, doi. 10.1523/JNEUROSCI.3819-05.2006
- By:
- Publication type:
- Article
Loss of Mtmr2 Phosphatase in Schwann Cells But Not in Motor Neurons Causes Charcot-Marie-Tooth Type 4B1 Neuropathy with Myelin Outfoldings.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 37, p. 8567, doi. 10.1523/JNEUROSCI.2493-05.2005
- By:
- Publication type:
- Article
Correction: Molecular mechanisms and therapeutic strategies for neuromuscular diseases.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Molecular mechanisms and therapeutic strategies for neuromuscular diseases.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05229-9
- 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
Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1911, doi. 10.1093/brain/awh519
- By:
- Publication type:
- Article
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
- Published in:
- European Journal of Heart Failure, 2006, v. 8, n. 5, p. 477, doi. 10.1016/j.ejheart.2005.11.003
- By:
- Publication type:
- Article
Diffuse intraneural leiomyoma in a case of sensorimotor neuropathy.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Docetaxel neuropathy: a distal axonopathy.
- Published in:
- Acta Neuropathologica, 1999, v. 98, n. 6, p. 651, doi. 10.1007/s004010051132
- By:
- Publication type:
- Article
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 5, p. e204040, doi. 10.1001/jamanetworkopen.2020.4040
- 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
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
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
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
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
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
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
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 1, p. 356, doi. 10.1007/s00415-020-10144-7
- By:
- Publication type:
- Article
Neuromyelitis optica and myotonic dystrophy type 2: a rare association with diagnostic implications.
- Published in:
- 2020
- By:
- Publication type:
- Letter