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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 219, doi. 10.1007/s10048-017-0525-5
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- Publication type:
- Article
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 11, p. 2004, doi. 10.1038/mt.2014.138
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- Publication type:
- Article
HaNDL syndrome: a reversible cerebral vasoconstriction triggered by an infection? A case report and a case-based review.
- Published in:
- European Journal of Medical Research, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s40001-022-00815-8
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- Publication type:
- Article
How to forget a "traumatic" experience: a case report of transient global amnesia after nasopharyngeal swab for Coronavirus disease 19.
- Published in:
- 2021
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- Publication type:
- journal article
Fulminant inflammatory demyelination presenting as stroke‐in‐evolution in an elderly subject.
- Published in:
- Brain & Behavior, 2021, v. 11, n. 8, p. 1, doi. 10.1002/brb3.1967
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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
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
- Published in:
- Advances in Therapy, 2008, v. 25, n. 8, p. 820, doi. 10.1007/s12325-008-0086-y
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- Publication type:
- Article
Erratum to: Spinal hemorrhage in eosinophilic granulomatosis with polyangiitis (Churg-Strauss).
- Published in:
- 2014
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- Publication type:
- Erratum
Spinal hemorrhage in eosinophilic granulomatosis with polyangiitis (Churg-Strauss).
- Published in:
- 2014
- By:
- Publication type:
- Letter
Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01221-x
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- Publication type:
- Article
Cerebrospinal fluid levels of tau phosphorylated at threonine 181 in patients with Alzheimer’s disease and vascular dementia.
- Published in:
- Neurological Sciences, 2008, v. 29, n. 6, p. 417, doi. 10.1007/s10072-008-1023-1
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- Publication type:
- Article
Cerebrospinal fluid levels of tau phosphorylated at threonine 181 in patients with Alzheimer's disease and vascular dementia.
- Published in:
- 2008
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- Publication type:
- journal article
Acute disseminated encephalomyelitis.
- Published in:
- Neurological Sciences, 2008, v. 29, p. 286, doi. 10.1007/s10072-008-0966-6
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- Publication type:
- Article
Varicella zoster virus meningo-encephalo-myelitis in an immunocompetent patient.
- Published in:
- Neurological Sciences, 2008, v. 29, n. 4, p. 279, doi. 10.1007/s10072-008-0982-6
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- Publication type:
- Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 11, p. 1567, doi. 10.3390/biom13111567
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- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
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- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
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- Publication type:
- journal article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-66
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- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- 2013
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- Publication type:
- journal article
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical and electrophysiological evaluation of peripheral neuropathy in rheumatoid arthritis.
- Published in:
- 2006
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- Publication type:
- Letter
Erectile dysfunction as a sentinel symptom of cardiovascular autonomic neuropathy in heavy drinkers.
- Published in:
- Journal of the Peripheral Nervous System, 2004, v. 9, n. 4, p. 209, doi. 10.1111/j.1085-9489.2004.09403.x
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- Publication type:
- Article
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8
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- Publication type:
- Article
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 737, doi. 10.1007/s10545-010-9204-5
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- Publication type:
- Article
Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 11, p. 1538, doi. 10.1007/s00415-007-0579-7
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- Publication type:
- Article
Severe steroid-resistant post-infectious encephalomyelitis.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 11, p. 1518, doi. 10.1007/s00415-007-0561-4
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- Publication type:
- Article
Ocular neuromyotonia with both tonic and paroxysmal components due to vascular compression.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 2, p. 227, doi. 10.1007/s00415-005-0612-7
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- Publication type:
- Article
Post-infectious and postvaccinal acute disseminated encephalomyelitis occurring in the same patients.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 9, p. 1147, doi. 10.1007/s00415-004-0498-9
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- Publication type:
- Article
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
- Published in:
- Lung, 2013, v. 191, n. 5, p. 537, doi. 10.1007/s00408-013-9489-x
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- Publication type:
- Article
COVID‐19 in patients with myasthenia gravis: Epidemiology and disease course.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 2, p. 206, doi. 10.1002/mus.27324
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- Publication type:
- Article
Buprenorphine may be effective for treatment of paramyotonia congenita.
- Published in:
- 2021
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- Publication type:
- journal article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
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- Publication type:
- Article
Rehabilitative Treatment of a Ehlers-Danlos Syndrome borderline patient: Case Report.
- Published in:
- 2013
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- Publication type:
- Journal Article
TRATT AMENTO RIABILITATIVO DI UNA PAZIENTE BORDERLINE PER SINDROME DI EHLERS-DANLOS. CASE REPORT.
- Published in:
- Scienza Riabilitativa, 2013, v. 15, n. 1, p. 27
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- Publication type:
- Article
Guillain‐Barré syndrome and COVID‐19: A 1‐year observational multicenter study.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 11, p. 3358, doi. 10.1111/ene.15497
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- Publication type:
- Article