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Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 979, doi. 10.3233/JND-210663
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- Publication type:
- Article
Expanding the spectrum of SPTLC1‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 308, doi. 10.1111/jns.12394
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- Publication type:
- Article
The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases.
- Published in:
- Nutrients, 2019, v. 11, n. 8, p. 1881, doi. 10.3390/nu11081881
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- Publication type:
- Article
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients.
- Published in:
- Nutrients, 2017, v. 9, n. 7, p. 783, doi. 10.3390/nu9070783
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- Publication type:
- Article
Respiratory Function Changes as Early Signs of Amyotrophic Lateral Sclerosis.
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- Respiration, 2023, v. 102, n. 11, p. 919, doi. 10.1159/000533870
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- Publication type:
- Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 9108, doi. 10.3390/ijms24109108
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- Publication type:
- Article
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3625, doi. 10.3390/ijms22073625
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- Publication type:
- Article
Molecular basis and clinical management of Pompe disease.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1s, p. 30, doi. 10.4081/cardiogenetics.2013.s1.e5
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- Publication type:
- Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
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- Publication type:
- Article
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 344, doi. 10.3390/genes12030344
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- Publication type:
- Article
Rasagiline for sleep disorders in patients with Parkinson's disease: a prospective observational study.
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- Neuropsychiatric Disease & Treatment, 2016, v. 12, p. 2497, doi. 10.2147/NDT.S116476
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- Publication type:
- Article
Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene.
- Published in:
- Functional Neurology, 2018, v. 33, n. 2, p. 117
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- Publication type:
- Article
Dramatic neurological debut in a case of Köhlmeier-Degos disease.
- Published in:
- 2019
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- Publication type:
- case study
Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas – CT and MRI aspects: Report of two new cases and literature review.
- Published in:
- Neuroradiology Journal, 2016, v. 29, n. 4, p. 295, doi. 10.1177/1971400916648336
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- Publication type:
- Article
Increased Cerebrospinal Fluid Levels of 3,3′,5′-Triiodothyronine in Patients with Alzheimer’s Disease.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 198, doi. 10.1210/jc.2004-1083
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- Publication type:
- Article
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 5, p. 664, doi. 10.1111/nan.12690
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- Publication type:
- Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-159
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- Publication type:
- Article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-91
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- Publication type:
- Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
- Published in:
- 2013
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- Publication type:
- journal article
Diagnosis of amyotrophic lateral sclerosis by respiratory function test.
- Published in:
- Multidisciplinary Respiratory Medicine, 2023, v. 18, p. 155, doi. 10.4081/mrm.2023.941
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- Publication type:
- Article
Common variants in the regulative regions ofGRIA1 and GRIA3 receptor genes are associatedwith migraine susceptibility.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 103, doi. 10.1186/1471-2350-11-103
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- Publication type:
- Article
Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design.
- Published in:
- Cancers, 2020, v. 12, n. 10, p. 2965, doi. 10.3390/cancers12102965
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- Publication type:
- Article
Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds.
- Published in:
- Cancers, 2020, v. 12, n. 2, p. 454, doi. 10.3390/cancers12020454
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- Publication type:
- Article
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 10, p. 1398, doi. 10.1007/s00415-002-0849-3
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- Publication type:
- Article
Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
- Published in:
- Journal of Cellular Physiology, 2018, v. 233, n. 8, p. 5829, doi. 10.1002/jcp.26365
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- Publication type:
- Article
Adult‐onset brain tumors and neurodegeneration: Are polyphenols protective?
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- Journal of Cellular Physiology, 2018, v. 233, n. 5, p. 3955, doi. 10.1002/jcp.26170
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- Publication type:
- Article
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
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- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3222, doi. 10.3390/jcm10153222
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- Publication type:
- Article
Intrafamilial "DOA‐plus" phenotype variability related to different OMI/HTRA2 expression.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 176, doi. 10.1002/ajmg.a.61381
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- Publication type:
- Article
Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy.
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- Muscle & Nerve, 2003, v. 27, n. 1, p. 102, doi. 10.1002/mus.10260
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- Publication type:
- Article
Nanoparticle-Guided Brain Drug Delivery: Expanding the Therapeutic Approach to Neurodegenerative Diseases.
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- Pharmaceutics, 2021, v. 13, n. 11, p. 1897, doi. 10.3390/pharmaceutics13111897
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- Publication type:
- Article
Cerebral Angiogenesis Triggered By Severe Chronic Hypoxia Displays Regional Differences.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 1997, v. 17, n. 7, p. 801, doi. 10.1097/00004647-199707000-00010
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- Publication type:
- Article