Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Microfluidic Amplification as a Tool for Massive Parallel Sequencing of the Familial Hypercholesterolemia Genes

(2012) S. Hollants et al.   CLINICAL CHEMISTRY

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

(2012) Samuel M. Lee et al.   JOURNAL OF CELL BIOLOGY

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

Purine nucleosides: endogenous neuroprotectants in hypoxic brain

(2012) Bettina Thauerer et al.   JOURNAL OF NEUROCHEMISTRY

An experimental investigation of kernels on graphs for collaborative recommendation and semisupervised classification

(2012) François Fouss et al.   NEURAL NETWORKS

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

The AAA ATPase spastin links microtubule severing to membrane modelling

(2011) Jennifer H. Lumb et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Regulation of Endocytic Sorting by ESCRT–DUB-Mediated Deubiquitination

(2011) Michelle H. Wright et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Prioritizing candidate disease genes by network-based boosting of genome-wide association data

(2011) I. Lee et al.   GENOME RESEARCH

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

Algorithms for Detecting Significantly Mutated Pathways in Cancer

(2011) Fabio Vandin et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Automated measurement of zebrafish larval movement

(2011) Clinton L. Cario et al.   JOURNAL OF PHYSIOLOGY-LONDON

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Bicaudal-D binds clathrin heavy chain to promote its transport and augments synaptic vesicle recycling

(2010) Xuan Li et al.   EMBO JOURNAL

Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis

(2010) Max A Schlager et al.   EMBO JOURNAL

SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis

(2010) Benoît Renvoisé et al.   MOLECULAR BIOLOGY OF THE CELL

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

(2010) Antonia P. Sagona et al.   NATURE CELL BIOLOGY

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Associating Genes and Protein Complexes with Disease via Network Propagation

(2010) Oron Vanunu et al.   PLoS Computational Biology

Fewer permutations, more accurate P-values

(2009) Theo A. Knijnenburg et al.   BIOINFORMATICS

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

(2009) Umut Dursun et al.   NEUROGENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

iRefIndex: A consolidated protein interaction database with provenance

(2008) Sabry Razick et al.   BMC BIOINFORMATICS

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

UAF1 Is a Subunit of Multiple Deubiquitinating Enzyme Complexes

(2008) Martin A. Cohn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ConsensusPathDB—a database for integrating human functional interaction networks

(2008) Atanas Kamburov et al.   NUCLEIC ACIDS RESEARCH