Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

B-cell Therapy for Multiple Sclerosis: Entering an era

(2018) Ariele L. Greenfield et al.   ANNALS OF NEUROLOGY

A contemporary profile of primary progressive multiple sclerosis participants from the NARCOMS Registry

(2017) Amber Salter et al.   Multiple Sclerosis Journal

A contemporary profile of primary progressive multiple sclerosis participants from the NARCOMS Registry

(2017) Amber Salter et al.   Multiple Sclerosis Journal

Primary Progressive Multiple Sclerosis: Putting Together the Puzzle

(2017) Ahmed Abdelhak et al.   Frontiers in Neurology

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter

(2016) K. Hares et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

Neurodegeneration in multiple sclerosis is a process separate from inflammation: Yes

(2015) Céline Louapre et al.   Multiple Sclerosis Journal

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

Neurodegeneration in multiple sclerosis is a process separate from inflammation: Yes

(2015) Céline Louapre et al.   Multiple Sclerosis Journal

The Role of Astrocytes in Multiple Sclerosis Progression

(2015) Jorge Correale et al.   Frontiers in Neurology

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation

(2014) A. Romagnolo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Defining the clinical course of multiple sclerosis: The 2013 revisions

(2014) F. D. Lublin et al.   NEUROLOGY

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

(2014) Warren A. Kibbe et al.   NUCLEIC ACIDS RESEARCH

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

(2013) David R. Blair et al.   CELL

Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data

(2013) B. L. Browning et al.   GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

(2013) Loretta Racis et al.   JOURNAL OF NEUROLOGY

An antibody with high reactivity for disease-associated α-synuclein reveals extensive brain pathology

(2012) Gabor G. Kovacs et al.   ACTA NEUROPATHOLOGICA

In depth comparison of an individual’s DNA and its lymphoblastoid cell line using whole genome sequencing

(2012) Dorothee Nickles et al.   BMC GENOMICS

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

(2012) Richard H. Roxburgh et al.   JOURNAL OF NEUROLOGY

Progressive multiple sclerosis: pathology and pathogenesis

(2012) Hans Lassmann et al.   Nature Reviews Neurology

Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria

(2011) Chris H. Polman et al.   ANNALS OF NEUROLOGY

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

Chronic Progressive Multiple Sclerosis – Pathogenesis of Neurodegeneration and Therapeutic Strategies

(2010) Dirk Fitzner et al.   Current Neuropharmacology

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

(2010) Tobias Warnecke et al.   MOVEMENT DISORDERS

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

(2009) Angela Magariello et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Pictorial Review of Tuberous Sclerosis in Various Organs

(2008) Shigeaki Umeoka et al.   RADIOGRAPHICS