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Efgartigimod as Rescue Medication in a Patient with Therapy‐Refractory Myasthenic Crisis.
- Published in:
- Case Reports in Neurological Medicine, 2024, v. 2024, p. 1, doi. 10.1155/2024/9455237
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- Publication type:
- Article
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
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- Publication type:
- Article
Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 152, doi. 10.1111/jns.12378
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- Publication type:
- Article
Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis.
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- Cells (2073-4409), 2021, v. 10, n. 5, p. 1146, doi. 10.3390/cells10051146
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- Publication type:
- Article
Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene.
- Published in:
- 2023
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- Publication type:
- Case Study
Human skeletal muscle as a target organ of trichloroethylene toxicity.
- Published in:
- 2005
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- Publication type:
- case study
Human Skeletal Muscle as a Target Organ of Trichloroethylene Toxicity.
- Published in:
- 2005
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- Publication type:
- Letter
Dermatomyositis and Retroperitoneal Germ Cell Cancer.
- Published in:
- European Neurology, 2001, v. 45, n. 1, p. 52, doi. 10.1159/000052090
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- Publication type:
- Article
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
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- Acta Myologica, 2022, v. 41, n. 4, p. 135, doi. 10.36185/2532-1900-081
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- Publication type:
- Article
Management of motor rehabilitation in individuals with muscular dystrophies. 1<sup>st</sup> Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).
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- Acta Myologica, 2021, v. 40, n. 2, p. 72, doi. 10.36185/2532-1900-046
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- Publication type:
- Article
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
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- Neurogenetics, 2022, v. 23, n. 1, p. 19, doi. 10.1007/s10048-021-00673-2
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- Publication type:
- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
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- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
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- Publication type:
- Article
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
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- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
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- Publication type:
- Article
MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy.
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- Journal of Neuroimaging, 2013, v. 23, n. 4, p. 543, doi. 10.1111/jon.12039
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- Publication type:
- Article
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
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- Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
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- Publication type:
- Article
Physical activity and amyotrophic lateral sclerosis: A European population-based case-control study.
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- Annals of Neurology, 2014, v. 75, n. 5, p. 708, doi. 10.1002/ana.24150
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- Publication type:
- Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
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- Publication type:
- Article
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6991, doi. 10.3390/ijms22136991
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- Publication type:
- Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
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- Publication type:
- Article
Leveraging process mining for modeling progression trajectories in amyotrophic lateral sclerosis.
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- BMC Medical Informatics & Decision Making, 2023, v. 22, p. 1, doi. 10.1186/s12911-023-02113-7
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- Publication type:
- Article
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
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- Acta Neuropathologica, 2004, v. 108, n. 2, p. 168, doi. 10.1007/s00401-004-0872-9
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- Publication type:
- Article
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).
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- Acta Neuropathologica, 2003, v. 106, n. 1, p. 57, doi. 10.1007/s00401-003-0698-x
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- Publication type:
- Article
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.
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- Acta Neuropathologica, 2002, v. 103, n. 3, p. 215, doi. 10.1007/s004010100455
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- Publication type:
- Article
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00580
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- Publication type:
- Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.
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- Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
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- Publication type:
- Article
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
- Published in:
- 2019
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- Publication type:
- journal article
Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study.
- Published in:
- Neurodegenerative Diseases, 2016, v. 16, n. 5/6, p. 411, doi. 10.1159/000446802
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- Publication type:
- Article
Bridging the Gap: Translational Medicine and Novel Therapies in Neuromuscular Diseases.
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- Journal of Integrative Neuroscience, 2024, v. 23, n. 5, p. 1, doi. 10.31083/j.jin2305094
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- Publication type:
- Article
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.
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- Nutrition Reviews, 2009, v. 67, n. 8, p. 427, doi. 10.1111/j.1753-4887.2009.00221.x
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- Publication type:
- Article
Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III.
- Published in:
- Case Reports in Neurological Medicine, 2019, p. 1, doi. 10.1155/2019/4839793
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- Publication type:
- Article
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
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- Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
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- Publication type:
- Article
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 5177, doi. 10.1007/s00415-024-12437-7
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- Publication type:
- Article
White matter abnormalities in 15 subjects with SPG76.
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- Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
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- Publication type:
- Article
Correction to: Retrospective observational study on the use of acetyl-l-carnitine in ALS.
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- 2023
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- Publication type:
- Correction Notice
Retrospective observational study on the use of acetyl-l-carnitine in ALS.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5344, doi. 10.1007/s00415-023-11844-6
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- Publication type:
- Article
Prolonged distal motor latency of median nerve does not improve diagnostic accuracy for CIDP.
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- Journal of Neurology, 2022, v. 269, n. 2, p. 907, doi. 10.1007/s00415-021-10672-w
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- Publication type:
- Article
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
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- Journal of Neurology, 2021, v. 268, n. 1, p. 356, doi. 10.1007/s00415-020-10144-7
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- Publication type:
- Article
Sural nerve biopsy: current role and comparison with serum neurofilament light chain levels.
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- Journal of Neurology, 2020, v. 267, n. 10, p. 2881, doi. 10.1007/s00415-020-09949-3
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- Publication type:
- Article
Impact of environmental factors and physical activity on disability and quality of life in CIDP.
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- Journal of Neurology, 2020, v. 267, n. 9, p. 2683, doi. 10.1007/s00415-020-09916-y
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- Publication type:
- Article
Muscle pain in mitochondrial diseases: a picture from the Italian network.
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- Journal of Neurology, 2019, v. 266, n. 4, p. 953, doi. 10.1007/s00415-019-09219-x
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- Publication type:
- Article
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
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- Journal of Neurology, 2016, v. 263, n. 6, p. 1204, doi. 10.1007/s00415-016-8123-2
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- Publication type:
- Article
Subcutaneous immunoglobulin in CIDP and MMN: a short-term nationwide study.
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- Journal of Neurology, 2014, v. 261, n. 11, p. 2159, doi. 10.1007/s00415-014-7444-2
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- Publication type:
- Article
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
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- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
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- Publication type:
- Article
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
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- Journal of Neurology, 2014, v. 261, n. 2, p. 373, doi. 10.1007/s00415-013-7206-6
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- Publication type:
- Article
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 12, p. 2699, doi. 10.1007/s00415-012-6572-9
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- Publication type:
- Article
Unravelling the mysteries: a reflection on rare neurological diseases.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 833, doi. 10.1007/s10072-024-07374-2
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- Publication type:
- Article
Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 6, p. 3939, doi. 10.1007/s10072-021-05811-0
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- Publication type:
- Article
Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients.
- Published in:
- 2022
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- Publication type:
- journal article
The neurophysiological lesson from the Italian CIDP database.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 1, p. 573, doi. 10.1007/s10072-021-05321-z
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- Publication type:
- Article