Genetics of Amyotrophic Lateral Sclerosis

Severe axonal neuropathy is a late manifestation of SPG11

(2016) Andreea Manole et al.   JOURNAL OF NEUROLOGY

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

(2016) Claire S. Leblond et al.   NEUROBIOLOGY OF AGING

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity

(2016) Chunxing Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

(2016) Aarti Sharma et al.   Nature Communications

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1

(2015) Dario Ronchi et al.   BRAIN

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

Homozygosity mapping in an Irish ALS case–control cohort describes local demographic phenomena and points towards potential recessive risk loci

(2015) Russell L. McLaughlin et al.   GENOMICS

Emerging mechanisms of molecular pathology in ALS

(2015) Owen M. Peters et al.   JOURNAL OF CLINICAL INVESTIGATION

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy

(2015) M. Carolina Gallego-Iradi et al.   PLoS One

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion

(2014) Dirk Bäumer et al.   ACTA NEUROPATHOLOGICA

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

(2014) Sylvie Bannwarth et al.   BRAIN

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

Glial cells in amyotrophic lateral sclerosis

(2014) T. Philips et al.   EXPERIMENTAL NEUROLOGY

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients

(2014) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

(2014) Senda Ajroud-Driss et al.   NEUROGENETICS

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

CX3CR1 Is a Modifying Gene of Survival and Progression in Amyotrophic Lateral Sclerosis

(2014) Alan Lopez-Lopez et al.   PLoS One

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies

(2014) Steve Vucic et al.   TRENDS IN NEUROSCIENCES

TREM2Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis

(2014) Janet Cady et al.   JAMA Neurology

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

(2013) Carol Dobson-Stone et al.   ACTA NEUROPATHOLOGICA

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

(2013) I. Fogh et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis

(2013) J. Prause et al.   HUMAN MOLECULAR GENETICS

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

(2013) Atchayaram Nalini et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

(2013) Sruti Rayaprolu et al.   Molecular Neurodegeneration

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

(2013) Min Deng et al.   NATURE GENETICS

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

Exome sequencing to identify de novo mutations in sporadic ALS trios

(2013) Alessandra Chesi et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor

(2013) Özgün Uyan et al.   PLoS One

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis

(2013) Cristian A. Droppelmann et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

(2013) M. Sanhueza et al.   Biology Open

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study

(2012) Mario Sabatelli et al.   Amyotrophic Lateral Sclerosis

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

(2012) Shuping Li et al.   ANGIOGENESIS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Rodent models of TDP-43: Recent advances

(2012) William Tsao et al.   BRAIN RESEARCH

Neuropathy target esterase (NTE): overview and future

(2012) Rudy J. Richardson et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

(2012) Y. Song et al.   Disease Models & Mechanisms

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

(2012) Véronique V Belzil et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

(2012) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations

(2012) Adriano Chiò et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Nuclear Localization of Human SOD1 and Mutant SOD1-Specific Disruption of Survival Motor Neuron Protein Complex in Transgenic Amyotrophic Lateral Sclerosis Mice

(2012) Barry Gertz et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Heterogeneous nuclear ribonucleoprotein A1 in health and neurodegenerative disease: From structural insights to post-transcriptional regulatory roles

(2012) Uriya Bekenstein et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

(2012) Yevgeniya Abramzon et al.   NEUROBIOLOGY OF AGING

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

(2012)   NEUROBIOLOGY OF AGING

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

(2012) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

(2012) Paloma González-Pérez et al.   NEUROBIOLOGY OF DISEASE

SMN1 gene duplications are associated with sporadic ALS

(2012) H. M. Blauw et al.   NEUROLOGY

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans

(2012) Lydia Coulter Kwee et al.   PLoS One

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

(2012) Frank P. Diekstra et al.   PLoS One

Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons

(2012) Nethaji Thiyagarajan et al.   Nature Communications

Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis

(2011) Karin Forsberg et al.   ACTA NEUROPATHOLOGICA

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

(2011) Michael A. van Es et al.   ANNALS OF NEUROLOGY

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

(2011) T. Lee et al.   HUMAN MOLECULAR GENETICS

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

(2011) Aritoshi Iida et al.   HUMAN MOLECULAR GENETICS

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

(2011) Hélène Blasco et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

(2011) Marco Luigetti et al.   NEUROBIOLOGY OF AGING

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

Genetic Variation in KIFAP3 Is Associated with an Upper Motor Neuron-Predominant Phenotype in Amyotrophic Lateral Sclerosis

(2011) V. Orsetti et al.   Neurodegenerative Diseases

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

(2010) Hélène Blasco et al.   Amyotrophic Lateral Sclerosis

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

(2010) Eric J. Huang et al.   BRAIN PATHOLOGY

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

(2010) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutant human β4 subunit identified in amyotrophic lateral sclerosis patients impairs nicotinic receptor function

(2010) Claudia Moriconi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial aggregation of amyotrophic lateral sclerosis

(2009) Fang Fang et al.   ANNALS OF NEUROLOGY

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

(2009) M. Sabatelli et al.   HUMAN MOLECULAR GENETICS

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

(2009) Adriano Chiò et al.   HUMAN MOLECULAR GENETICS

Molecular Neuropathology of TDP-43 Proteinopathies

(2009) Manuela Neumann   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism

(2009) Jozsef Gal et al.   JOURNAL OF NEUROCHEMISTRY

Axonal Transport Defects in Neurodegenerative Diseases

(2009) G. A. Morfini et al.   JOURNAL OF NEUROSCIENCE

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

(2009) Isabella Fogh et al.   NEUROBIOLOGY OF AGING

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

(2009) L. Zinman et al.   NEUROLOGY

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

(2009) A. -M. Wills et al.   NEUROLOGY

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

(2009) Russell J. Butterfield et al.   NEUROMUSCULAR DISORDERS

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

(2009) F. Gros-Louis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Design, power, and interpretation of studies in the standard murine model of ALS

(2008) Sean Scott et al.   Amyotrophic Lateral Sclerosis

Aggregation of neurodegenerative disease in ALS kindreds

(2008) Brooks A. Fallis et al.   Amyotrophic Lateral Sclerosis

ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth

(2008) Asako Otomo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Screening for replication of genome-wide SNP associations in sporadic ALS

(2008) Simon Cronin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3

(2008) Minako Tateno et al.   HUMAN MOLECULAR GENETICS

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

(2008) Hylke M Blauw et al.   LANCET NEUROLOGY

Chromogranin peptides in amyotrophic lateral sclerosis

(2008) A. Schrott-Fischer et al.   REGULATORY PEPTIDES

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics

SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia

(2007) W.J. Broom et al.   NEUROSCIENCE LETTERS