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Disruption of prion protein-HOP engagement impairs glioblastoma growth and cognitive decline and improves overall survival

Oncogene, 2015-06, Vol.34 (25), p.3305-3314

2015

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.108-120

2005

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Bioinformatics construction of the human cell surfaceome

Proceedings of the National Academy of Sciences - PNAS, 2009-09, Vol.106 (39), p.16752-16757

2009

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14-3-3 protein in the CSF of patients with rapidly progressive dementia

Neurology, 2003-08, Vol.61 (3), p.354

2003

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MHC class I and II expression in juvenile dermatomyositis skeletal muscle

Clinical and experimental rheumatology, 2009-05, Vol.27 (3), p.519

2009

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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

Human molecular genetics, 1996-12, Vol.5 (12), p.1963-1969

1996

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Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD

Human molecular genetics, 1996-06, Vol.5 (6), p.815-820

1996

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The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12

American journal of human genetics, 1997-07, Vol.61 (1), p.151-159

1997

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Transcriptional profiling of macaque microglia reveals an evolutionary preserved gene expression program

Brain, behavior, & immunity. Health, 2021-08, Vol.15, p.100265-100265, Article 100265

2021

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Diffusion-weighted MRI in two cases of familial Creutzfeldt–Jakob disease

Journal of the neurological sciences, 2001-03, Vol.184 (2), p.163-167

2001

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Mitochondrial DNA depletion and its correlation with TFAM, TFB1M, TFB2M and POLG in human diffusely infiltrating astrocytomas

Mitochondrion, 2011-01, Vol.11 (1), p.48-53

2011

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Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.287-300

2012

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Anti-C1q Antibodies in Juvenile-Onset Systemic Lupus Erythematosus

Annals of the New York Academy of Sciences, 2009-09, Vol.1173 (1), p.235-238

2009

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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

Human molecular genetics, 1996-12, Vol.5 (12), p.1953-1961

1996

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Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

Journal of the neurological sciences, 1999-03, Vol.164 (1), p.44-49

1999

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Frequency of parafunctional oral habits in patients with cerebral palsy

Journal of oral rehabilitation, 2007-05, Vol.34 (5), p.323-328

2007

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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

Human molecular genetics, 1995-03, Vol.4 (3), p.401-406

1995

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Frequency of temporomandibular disorder signs in individuals with cerebral palsy

Journal of oral rehabilitation, 2008-03, Vol.35 (3), p.191-195

2008

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High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families

American journal of human genetics, 1995, Vol.56 (1), p.99-105

1995

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Nebulin expression in patients with nemaline myopathy

Neuromuscular disorders : NMD, 2001-03, Vol.11 (2), p.154-162

2001

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A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Journal of medical genetics, 1998-11, Vol.35 (11), p.951-953

1998

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Bite force and handgrip force in patients with molecular diagnosis of myotonic dystrophy

Journal of oral rehabilitation, 2007-03, Vol.34 (3), p.195-200

2007

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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families

Journal of medical genetics, 1996-02, Vol.33 (2), p.97-102

1996

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Measuring Carotid stenosis on contrast-enhanced magnetic resonance angiography: Diagnostic performance and reproducibility of 3 different methods

Stroke (1970), 2004-09, Vol.35 (9), p.2083-2088

2004

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Histopathological findings in skeletal muscle used in human dynamic cardiomyoplasty

The Journal of pathology, 2001-05, Vol.194 (1), p.116-121

2001

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