Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy

How good are pathogenicity predictors in detecting benign variants?

(2019) Abhishek Niroula et al.   PLoS Computational Biology

Natalizumab-associated progressive multifocal leukoencephalopathy in Germany

(2019) Kira Blankenbach et al.   NEUROLOGY

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

(2019) Shen-Ying Zhang et al.   CURRENT OPINION IN IMMUNOLOGY

Newer Treatment Approaches in Pediatric-Onset Multiple Sclerosis

(2019) Gabrielle Macaron et al.   Current Treatment Options in Neurology

Prospective validation of the PML risk biomarker l-selectin and influence of natalizumab extended intervals

(2019) Nicholas Schwab et al.   NEUROLOGY

Progressive multifocal leukoencephalopathy and anti‐CD20 monoclonal antibodies: What do we know after 20 years of rituximab

(2019) Daniele Focosi et al.   REVIEWS IN MEDICAL VIROLOGY

Progressive multifocal leukoencephalopathy

(2019) Pria Anand et al.   Neurology-Neuroimmunology & Neuroinflammation

Clinical Characteristics of Multiple Sclerosis in African-Americans

(2019) Veronica P. Cipriani et al.   Current Neurology and Neuroscience Reports

No evidence of disease activity including cognition (NEDA-3 plus) in naïve pediatric multiple sclerosis patients treated with natalizumab

(2019) Monica Margoni et al.   JOURNAL OF NEUROLOGY

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

(2018) Hassan Abolhassani et al.   GENETICS IN MEDICINE

Progressive multifocal leukoencephalopathy in rituximab-treated rheumatic diseases: a rare event

(2018) Joseph R. Berger et al.   JOURNAL OF NEUROVIROLOGY

Pathogenesis of progressive multifocal leukoencephalopathy and risks associated with treatments for multiple sclerosis: a decade of lessons learned

(2018) Eugene O Major et al.   LANCET NEUROLOGY

Ethnic Considerations and Multiple Sclerosis Disease Variability in the United States

(2018) Erica Rivas-Rodríguez et al.   NEUROLOGIC CLINICS

The national incidence of PML in Sweden, 1988–2013

(2018) Ellen Iacobaeus et al.   NEUROLOGY

Progressive multifocal leukoencephalopathy

(2018) David B. Clifford et al.   NEUROLOGY

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

(2018) Guillem de Valles-Ibáñez et al.   Frontiers in Immunology

Understanding Progressive Multifocal Leukoencephalopathy Risk in Multiple Sclerosis Patients Treated with Immunomodulatory Therapies: A Bird’s Eye View

(2018) Elizabeth A. Mills et al.   Frontiers in Immunology

Epistatic Interactions Between Mutations of Deoxyribonuclease 1-Like 3 and the Inhibitory Fc Gamma Receptor IIB Result in Very Early and Massive Autoantibodies Against Double-Stranded DNA

(2018) Thomas Weisenburger et al.   Frontiers in Immunology

A universal SNP and small-indel variant caller using deep neural networks

(2018) Ryan Poplin et al.   NATURE BIOTECHNOLOGY

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies

(2018) Jérôme Hadjadj et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Early diagnosis of progressive multifocal leucoencephalopathy: longitudinal lesion evolution

(2018) Cristina Scarpazza et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Progressive Multifocal Leukoencephalopathy

(2018) Elena Grebenciucova et al.   NEUROLOGIC CLINICS

Empirical estimation of under-reporting in the U.S. Food and Drug Administration Adverse Event Reporting System (FAERS)

(2017) Yasser M. Alatawi et al.   Expert Opinion On Drug Safety

Natalizumab in Multiple Sclerosis: Long-Term Management

(2017) Marinella Clerico et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Risk of natalizumab-associated progressive multifocal leukoencephalopathy in patients with multiple sclerosis: a retrospective analysis of data from four clinical studies

(2017) Pei-Ran Ho et al.   LANCET NEUROLOGY

Anti-JCV serology during natalizumab treatment: Review and meta-analysis of 17 independent patient cohorts analyzing anti-John Cunningham polyoma virus sero-conversion rates under natalizumab treatment and differences between technical and biological sero-converters

(2017) Nicholas Schwab et al.   Multiple Sclerosis Journal

Treatment decisions in multiple sclerosis — insights from real-world observational studies

(2017) Maria Trojano et al.   Nature Reviews Neurology

Natalizumab-associated PML

(2017) Nicholas Schwab et al.   NEUROLOGY

Diagnosis and Treatment of Progressive Multifocal Leukoencephalopathy Associated with Multiple Sclerosis Therapies

(2017) Eric M. L. Williamson et al.   Neurotherapeutics

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Type I interferon-mediated autoinflammation due to DNase II deficiency

(2017) Mathieu P. Rodero et al.   Nature Communications

Anti-JCV serology during natalizumab treatment: Review and meta-analysis of 17 independent patient cohorts analyzing anti-John Cunningham polyoma virus sero-conversion rates under natalizumab treatment and differences between technical and biological sero-converters

(2017) Nicholas Schwab et al.   Multiple Sclerosis Journal

Classifying PML risk with disease modifying therapies

(2017) Joseph R. Berger   Multiple Sclerosis and Related Disorders

Progressive Multifocal Leukoencephalopathy: Endemic Viruses and Lethal Brain Disease

(2017) Sheila A. Haley et al.   Annual Review of Virology

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders

(2016) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature

(2016) Christa S. Zerbe et al.   CLINICAL INFECTIOUS DISEASES

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Drug-associated progressive multifocal leukoencephalopathy: a clinical, radiological, and cerebrospinal fluid analysis of 326 cases

(2016) Roderick P. P. W. M. Maas et al.   JOURNAL OF NEUROLOGY

Statistical analysis of PML incidences of natalizumab-treated patients from 2009 to 2016: outcomes after introduction of the Stratify JCV® DxSelect™ antibody assay

(2016) Denise Campagnolo et al.   JOURNAL OF NEUROVIROLOGY

The Brd4 acetyllysine-binding protein is involved in activation of polyomavirus JC

(2016) Hassen S. Wollebo et al.   JOURNAL OF NEUROVIROLOGY

Progressive multifocal leukoencephalopathy in patients with systemic lupus erythematosus: a systematic literature review

(2016) C E Henegar et al.   LUPUS

Regulation and function of the cGAS–STING pathway of cytosolic DNA sensing

(2016) Qi Chen et al.   NATURE IMMUNOLOGY

Type I interferonopathies in pediatric rheumatology

(2016) Stefano Volpi et al.   Pediatric Rheumatology

Assessment of pharmacogenetic tests: presenting measures of clinical validity and potential population impact in association studies

(2016) E C M Tonk et al.   PHARMACOGENOMICS JOURNAL

JC Polyomavirus Infection of Primary Human Renal Epithelial Cells Is Controlled by a Type I IFN-Induced Response

(2016) Benedetta Assetta et al.   mBio

Re-evaluating the incidence of natalizumab-associated progressive multifocal leukoencephalopathy

(2016) Julian Borchardt et al.   Multiple Sclerosis and Related Disorders

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

(2016) Patrick Maffucci et al.   Frontiers in Immunology

Progressive multifocal leukoencephalopathy in an immunocompetent patient

(2016) Nicolien M. van der Kolk et al.   Annals of Clinical and Translational Neurology

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling

(2015) M Paciolla et al.   GENES AND IMMUNITY

Severe Combined Immunodeficiency Disorders

(2015) Ivan K. Chinn et al.   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Stratification and monitoring of natalizumab-associated progressive multifocal leukoencephalopathy risk: recommendations from an expert group

(2015) C McGuigan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Predictors of survival and functional outcomes in natalizumab-associated progressive multifocal leukoencephalopathy

(2015) Tuan Dong-Si et al.   JOURNAL OF NEUROVIROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Progressive multifocal leukoencephalopathy: current treatment options and future perspectives

(2015) Dejan Pavlovic et al.   Therapeutic Advances in Neurological Disorders

Is There a (Host) Genetic Predisposition to Progressive Multifocal Leukoencephalopathy?

(2015) Eli Hatchwell   Frontiers in Immunology

Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

(2014) Fatima Dhalla et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy

(2014) Aaron G. Day-Williams et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Long-term safety and effectiveness of natalizumab redosing and treatment in the STRATA MS Study

(2014) P. O'Connor et al.   NEUROLOGY

Rad51 Activates Polyomavirus JC Early Transcription

(2014) Martyn K. White et al.   PLoS One

Anti-JC virus (JCV) antibody prevalence in the JCV Epidemiology in MS (JEMS) trial

(2013) C. Bozic et al.   EUROPEAN JOURNAL OF NEUROLOGY

Data Mining of the Public Version of the FDA Adverse Event Reporting System

(2013) Toshiyuki Sakaeda et al.   International Journal of Medical Sciences

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

(2013) Elizabeth P. Sampaio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A second-generation ELISA (STRATIFY JCV™ DxSelect™) for detection of JC virus antibodies in human serum and plasma to support progressive multifocal leukoencephalopathy risk stratification

(2013) Peter Lee et al.   JOURNAL OF CLINICAL VIROLOGY

PML diagnostic criteria: Consensus statement from the AAN Neuroinfectious Disease Section

(2013) J. R. Berger et al.   NEUROLOGY

Progressive Multifocal Leukoencephalopathy: Why Gray and White Matter

(2012) Sarah Gheuens et al.   Annual Review of Pathology-Mechanisms of Disease

Polyomavirus JC infection inhibits differentiation of oligodendrocyte progenitor cells

(2012) Armine Darbinyan et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Complement genetics, deficiencies, and disease associations

(2012) Karine R. Mayilyan   Protein & Cell

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Progressive multifocal leukoencephalopathy in individuals with minimal or occult immunosuppression

(2009) S. Gheuens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Monoclonal antibody-associated progressive multifocal leucoencephalopathy in patients treated with rituximab, natalizumab, and efalizumab: a Review from the Research on Adverse Drug Events and Reports (RADAR) Project

(2009) Kenneth R Carson et al.   LANCET ONCOLOGY