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Early onset calpainopathy with normal non-functional calpain 3 level.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Multiple mtDNA deletions: Clinical and molecular correlations.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 155, doi. 10.1023/A:1005617916260
- By:
- Publication type:
- Article
Spasmodic dysphonia follow-up with videolaryngoscopy and voice spectrography during treatment with botulinum toxin.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 9, p. 1679, doi. 10.1007/s10072-015-2239-5
- By:
- Publication type:
- Article
Consistence and discrepancy of neuropathic pain screening tools DN4 and ID-Pain.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 3, p. 373, doi. 10.1007/s10072-012-1011-3
- By:
- Publication type:
- Article
Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family.
- Published in:
- Neurological Sciences, 2005, v. 26, n. 2, p. 67, doi. 10.1007/s10072-005-0438-1
- By:
- Publication type:
- Article
Meeting report.
- Published in:
- Neurological Sciences, 2001, v. 22, p. S1, doi. 10.1007/s100720170001
- By:
- Publication type:
- Article
Electrophysiological contribution to understanding the pathophysiology of Friedreich's ataxia.
- Published in:
- Neurological Sciences, 2001, v. 22, p. S27, doi. 10.1007/s100720170006
- By:
- Publication type:
- Article
Tactile stimulation and mechanoreceptors in sensory neuropathies.
- Published in:
- Neurological Sciences, 2001, v. 22, p. S31, doi. 10.1007/s100720170007
- By:
- Publication type:
- Article
Central responses evoked by tactile stimulation: technical note.
- Published in:
- Neurological Sciences, 2001, v. 22, p. S37, doi. 10.1007/s100720170008
- By:
- Publication type:
- Article
Global cardiovascular risk, COVID-19 severity and post-COVID-19 syndrome: a clinical study.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 24, p. 12141
- By:
- Publication type:
- Article
Self-reported adherence supports patient preference for the single tablet regimen (STR) in the current cART era.
- Published in:
- Journal of the International AIDS Society, 2012, v. 15, p. n/a, doi. 10.7448/IAS.15.6.18104
- By:
- Publication type:
- Article
Self-reported adherence supports patient preference for the single tablet regimen (STR) in the current cART era.
- Published in:
- 2012
- By:
- Publication type:
- Abstract
Charcot-Marie-Tooth disease: molecular characterization of patients from Central and Southern Italy.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 1, p. 27, doi. 10.1111/j.1399-0004.1995.tb03917.x
- By:
- Publication type:
- Article
Nerve conduction velocity in CMT1A: what else can we tell?
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 10, p. 1566, doi. 10.1111/ene.13079
- By:
- Publication type:
- Article
Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch<sup>™</sup> Activity Monitor and identification of the walking features related to higher quality of life.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 8, p. 1343, doi. 10.1111/ene.13033
- By:
- Publication type:
- Article
A multi-center, multinational age- and gender-adjusted normative dataset for immunofluorescent intraepidermal nerve fiber density at the distal leg.
- Published in:
- European Journal of Neurology, 2016, v. 23, p. 333, doi. 10.1111/ene.12842
- By:
- Publication type:
- Article
A multi-center, multinational age- and gender-adjusted normative dataset for immunofluorescent intraepidermal nerve fiber density at the distal leg.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 2, p. 333, doi. 10.1111/ene.12842
- By:
- Publication type:
- Article
Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 12, p. 1556, doi. 10.1111/ene.12783
- By:
- Publication type:
- Article
Insulin-like growth factor-1 predicts cognitive functions at 2-year follow-up in early, drug-naïve Parkinson's disease.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 5, p. 802, doi. 10.1111/ene.12137
- By:
- Publication type:
- Article
Lower limb involvement in adult-onset primary dystonia: frequency and clinical features.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 2, p. 242, doi. 10.1111/j.1468-1331.2009.02781.x
- By:
- Publication type:
- Article
Sural nerve and epidermal vascular abnormalities in a case of POEMS syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Evaluation of albuminuria and its relationship with blood pressure in dogs with chronic kidney disease.
- Published in:
- Veterinary Clinical Pathology, 2010, v. 39, n. 2, p. 203, doi. 10.1111/j.1939-165X.2009.00207.x
- By:
- Publication type:
- Article
P2‐030: THE LIFE‐DSR STUDY.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P582, doi. 10.1016/j.jalz.2019.06.1252
- By:
- Publication type:
- Article
Neutrophil-to-lymphocyte ratio but not monocyte-to-HDL cholesterol ratio nor platelet-to-lymphocyte ratio correlates with early stages of lower extremity arterial disease: an ultrasonographic study.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 9, p. 3453
- By:
- Publication type:
- Article
Arterial involvement in Fabry disease: state of the art and future diagnostic purposes.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 2, p. 845
- By:
- Publication type:
- Article
Association between peripheral arterial disease and cardiovascular risk factors: role of ultrasonography versus ankle-brachial index.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2018, v. 22, n. 10, p. 3160
- By:
- Publication type:
- Article
Atherosclerosis and cardiovascular involvement in celiac disease: the role of autoimmunity and inflammation.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2017, v. 21, n. 23, p. 5437
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- Publication type:
- Article
Focus on biological identity of endothelial progenitors cells.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 21, p. 4047
- By:
- Publication type:
- Article
Carotid free-floating thrombus in woman with meningioma: a case report and review of the literature.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 8, p. 1442
- By:
- Publication type:
- Article
New modalities of ultrasound-based intima-media thickness, arterial stiffness and non-coronary vascular calcifications detection to assess cardiovascular risk.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 8, p. 1430
- By:
- Publication type:
- Article
Something more to say about calcium homeostasis: the role of vitamin K2 in vascular calcification and osteoporosis.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2013, v. 17, n. 19, p. 2433
- By:
- Publication type:
- Article
Something more to say about calcium homeostasis: the role of vitamin K2 in vascular calcification and osteoporosis.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2013, v. 17, n. 18, p. 2433
- By:
- Publication type:
- Article
Role of fecal calprotectin in gastrointestinal disorders.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2013, v. 17, n. 12, p. 1569
- By:
- Publication type:
- Article
Obsessive-Compulsive Symptoms, Polygenic Risk Score, and Thalamic Development in Children From the Brazilian High-Risk Cohort for Mental Conditions (BHRCS).
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.673595
- By:
- Publication type:
- Article
Effect of exogenous beta-galactosidase in patients with lactose malabsorption and intolerance: a crossover double-blind placebo-controlled study.
- Published in:
- 2005
- By:
- Publication type:
- Journal Article
Effect of exogenousß-galactosidase in patients with lactose malabsorption and intolerance: a crossover double-blind placebo-controlled study.
- Published in:
- European Journal of Clinical Nutrition, 2005, v. 59, n. 4, p. 489, doi. 10.1038/sj.ejcn.1602098
- By:
- Publication type:
- Article
Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 109, doi. 10.1007/s100380050025
- By:
- Publication type:
- Article
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Production and characterization of two immunotoxins specific for M5b ANLL leukaemia.
- Published in:
- International Journal of Cancer, 1991, v. 49, n. 2, p. 310, doi. 10.1002/ijc.2910490228
- By:
- Publication type:
- Article
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 1, p. 1, doi. 10.1002/ajmg.c.32080
- By:
- Publication type:
- Article
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 1, p. 1, doi. 10.1002/ajmg.c.32067
- By:
- Publication type:
- Article
Down syndrome across the lifespan.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32082
- By:
- Publication type:
- Article
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32070
- By:
- Publication type:
- Article
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32063
- By:
- Publication type:
- Article
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 70, doi. 10.1002/ajmg.c.31876
- By:
- Publication type:
- Article
A current snapshot of common genomic variants contribution in psychiatric disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 997, doi. 10.1002/ajmg.b.32475
- By:
- Publication type:
- Article
Global health measures from a National Down Syndrome Registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2092, doi. 10.1002/ajmg.a.63243
- By:
- Publication type:
- Article
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2045, doi. 10.1002/ajmg.a.63233
- By:
- Publication type:
- Article
Response to Letter to the Editor by Palffy and Ghaziuddin.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
- By:
- Publication type:
- Article
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088
- By:
- Publication type:
- Article