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Where Do Parkinson's Disease Patients Look While Walking?

Movement disorders, 2022-04, Vol.37 (4), p.864-869

2022

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Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy

Journal of the neurological sciences, 2021-04, Vol.423, p.117358-117358, Article 117358

2021

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Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Brain (London, England : 1878), 2021-11, Vol.144 (10), p.3239-3250

2021

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The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Molecular genetics and metabolism, 2007-05, Vol.91 (1), p.37-47

2007

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fMRI prediction of naming change after adult temporal lobe epilepsy surgery: Activation matters

Epilepsia (Copenhagen), 2019-03, Vol.60 (3), p.527-538

2019

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A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica, 2007-04, Vol.96 (s455), p.63-70

2007

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Influence of Lung Function and Sleep-disordered Breathing on All-Cause Mortality. A Community-based Study

American journal of respiratory and critical care medicine, 2016-10, Vol.194 (8), p.1007-1014

2016

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Intrathecal Gene Therapy for Giant Axonal Neuropathy

The New England journal of medicine, 2024-03, Vol.390 (12), p.1092

2024

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Highly Sensitive 3-Tesla Real Inversion Recovery MRI Detects Leptomeningeal Contrast Enhancement in Chronic Active Multiple Sclerosis

Investigative radiology, 2024-03, Vol.59 (3), p.243

2024

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A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1189-1199

2021

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Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.732-738

2009

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Fluid-Attenuated Inversion Recovery Hyperintense Ischemic Stroke Predicts Less Favorable 90-Day Outcome after Intravenous Thrombolysis

Cerebrovascular diseases (Basel, Switzerland), 2021-12, Vol.50 (6), p.738-745

2021

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Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Neurology, 2019-11, Vol.93 (21), p.e1932

2019

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Effects of age and left hemisphere lesions on audiovisual integration of speech

Brain and language, 2020-07, Vol.206, p.104812-104812, Article 104812

2020

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Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Molecular genetics and metabolism, 2003, Vol.78 (1), p.37-43

2003

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High Rate of Microbleed Formation following Primary Intracerebral Hemorrhage

International journal of stroke, 2015-12, Vol.10 (8), p.1187-1191

2015

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Glycogen storage disease type Ia: molecular study in Brazilian patients

Journal of human genetics, 2001-03, Vol.46 (3), p.146-149

2001

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Total body zinc depletion and its relationship to the development of hyperprolactinemia in chronic renal insufficiency

Journal of endocrinological investigation, 1996-07, Vol.19 (7), p.441-448

1996

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A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

Journal of medical genetics, 2004-04, Vol.41 (4), p.266-269

2004

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The feasibility of introducing a visual screening test for children during vaccination campaigns

Journal of pediatric ophthalmology and strabismus, 2000-03, Vol.37 (2), p.68

2000

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Nucleolar organizer region (NORs) in pseudocarcinomatous hyperplasia and squamous cell carcinoma of the oral mucosa

São Paulo medical journal, 1995, Vol.113 (1), p.693-697

1995

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A study on hemostasis parameters in the neurosurgery of cerebral aneurysms

Journal of neurosurgical sciences, 1998-09, Vol.42 (3), p.131

1998

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Immunological studies in placentas with villitis of unknown etiology: complement components and immunoglobulins in chorionic villi

Journal of perinatal medicine, 1992, Vol.20 (2), p.129

1992

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Spondylocarpotarsal synostosis with ocular findings

American journal of medical genetics, 2000-03, Vol.91 (2), p.131-134

2000

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Where Do Parkinson's Disease Patients Look While Walking?

Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

fMRI prediction of naming change after adult temporal lobe epilepsy surgery: Activation matters

A clinical study of 77 patients with mucopolysaccharidosis type II

Influence of Lung Function and Sleep-disordered Breathing on All-Cause Mortality. A Community-based Study

Intrathecal Gene Therapy for Giant Axonal Neuropathy

Highly Sensitive 3-Tesla Real Inversion Recovery MRI Detects Leptomeningeal Contrast Enhancement in Chronic Active Multiple Sclerosis

A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Fluid-Attenuated Inversion Recovery Hyperintense Ischemic Stroke Predicts Less Favorable 90-Day Outcome after Intravenous Thrombolysis

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Effects of age and left hemisphere lesions on audiovisual integration of speech

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

High Rate of Microbleed Formation following Primary Intracerebral Hemorrhage

Glycogen storage disease type Ia: molecular study in Brazilian patients

Total body zinc depletion and its relationship to the development of hyperprolactinemia in chronic renal insufficiency

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

The feasibility of introducing a visual screening test for children during vaccination campaigns

Nucleolar organizer region (NORs) in pseudocarcinomatous hyperplasia and squamous cell carcinoma of the oral mucosa

A study on hemostasis parameters in the neurosurgery of cerebral aneurysms

Immunological studies in placentas with villitis of unknown etiology: complement components and immunoglobulins in chorionic villi

Spondylocarpotarsal synostosis with ocular findings

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