The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes

(2022) Antonio Canosa et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

(2022) Mariusz Berdyński et al.   Scientific Reports

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis—Frontotemporal Dementia

(2022) Eveljn Scarian et al.   Frontiers in Neurology

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

(2022) Benjamin G Trist et al.   BRAIN

SOD1 in ALS: Taking Stock in Pathogenic Mechanisms and the Role of Glial and Muscle Cells

(2022) Caterina Peggion et al.   Antioxidants

Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies

(2022) Sarah Breevoort et al.   Neurology-Genetics

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations

(2022) Edoardo Gioele Spinelli et al.   Frontiers in Neurology

Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules

(2021) Chiara Lanzillotta et al.   Biomolecules

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities

(2021) François Muratet et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive and behavioural impairment in amyotrophic lateral sclerosis: A landmark of the disease? A mini review of longitudinal studies

(2021) Monica Consonni et al.   NEUROSCIENCE LETTERS

Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis

(2021) Milena Jankovic et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Motor neuron disease beginning with frontotemporal dementia: clinical features and progression

(2021) Marta Gromicho et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family

(2021) Delia Gagliardi et al.   Neurology-Genetics

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment

(2020) Ilaria Martinelli et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

SOD1-interacting proteins: Roles of aggregation cores and protein degradation systems

(2020) Mio Une et al.   NEUROSCIENCE RESEARCH

SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS

(2020) Christian Mueller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

(2020) Ramya Ranganathan et al.   Frontiers in Neuroscience

11 C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis

(2020) Giacomo Tondo et al.   Annals of Clinical and Translational Neurology

A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

(2020) Owen Connolly et al.   Journal of Personalized Medicine

Cognitive and behavioural impairment in amyotrophic lateral sclerosis

(2020) Niall Pender et al.   CURRENT OPINION IN NEUROLOGY

Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature

(2020) Imogen J. Swift et al.   NEUROBIOLOGY OF AGING

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis

(2020) Chris Ugbode et al.   NEUROBIOLOGY OF DISEASE

Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder

(2019) Elisabetta Zucchi et al.   Frontiers in Neuroscience

Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis

(2019) Hui-Xia Lin et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Structural Properties and Interaction Partners of Familial ALS-Associated SOD1 Mutants

(2019) Jisen Huai et al.   Frontiers in Neurology

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

(2019) Julien H Park et al.   BRAIN

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

(2019) Peter M. Andersen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

(2019) Laurence Renaud et al.   Acta Neuropathologica Communications

Cognitive impairment across ALS clinical stages in a population-based cohort

(2019) Adriano Chiò et al.   NEUROLOGY

Comprehensive analysis of the mutation spectrum in 301 German ALS families

(2018) Kathrin Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

(2018) Federica Perrone et al.   NEUROBIOLOGY OF AGING

Unraveling ALS due toSOD1mutation through the combination of brain and cervical cord MRI

(2018) Federica Agosta et al.   NEUROLOGY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

The multistep hypothesis of ALS revisited

(2018) Adriano Chiò et al.   NEUROLOGY

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

(2018) Christopher Crockford et al.   NEUROLOGY

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia

(2017) Ivan V. Marjanović et al.   JOURNAL OF NEUROLOGY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Immunochemical characterization on pathological oligomers of mutant Cu/Zn-superoxide dismutase in amyotrophic lateral sclerosis

(2017) Eiichi Tokuda et al.   Molecular Neurodegeneration

The Role of Metal Binding in the Amyotrophic Lateral Sclerosis-Related Aggregation of Copper-Zinc Superoxide Dismutase

(2017) et al.   MOLECULES

Disease progression in C9orf72 mutation carriers

(2017) Mary K. Floeter et al.   NEUROLOGY

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum

(2017) Hamideh Shahheydari et al.   Frontiers in Molecular Neuroscience

Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B

(2017) Yu Zhang et al.   Stem Cell Reports

Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis

(2016) Simran J. Kaur et al.   GENE

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians

(2016) Jennifer Roggenbuck et al.   GENETICS IN MEDICINE

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

(2016) Taha Bali et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive impairment in amyotrophic lateral sclerosis, clues from the SOD1 mouse

(2016) Alida Spalloni et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

(2015) Masataka Nakamura et al.   ACTA NEUROPATHOLOGICA

Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis

(2015) Kevin X. Liu et al.   BRAIN

The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis

(2015) Qi Niu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The cognitive profile of ALS: a systematic review and meta-analysis update

(2015) Emma Beeldman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

A familial ALS case carrying a novel p.G147CSOD1heterozygous missense mutation with non-executive cognitive impairment: Figure 1

(2014) Antonio Canosa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

(2012) Jonathan S. Katz et al.   Amyotrophic Lateral Sclerosis

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

(2012) SG Mehta et al.   CLINICAL GENETICS

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients

(2012) Afagh Alavi et al.   NEUROBIOLOGY OF AGING

Sensorimotor and cognitive functions in a SOD1G37R transgenic mouse model of amyotrophic lateral sclerosis

(2011) Mohammed Filali et al.   BEHAVIOURAL BRAIN RESEARCH

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

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

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

(2011) Alan E. Renton et al.   NEURON

G41SSOD1mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

(2010) Stefania Battistini et al.   Amyotrophic Lateral Sclerosis

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

(2010) Glenn Lopate et al.   Amyotrophic Lateral Sclerosis

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

(2010) M. Synofzik et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP-43 proteinopathies

(2010) Felix Geser et al.   NEUROPATHOLOGY

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis

(2009) P. Wicks et al.   JOURNAL OF NEUROLOGY

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

(2009) C. Vance et al.   SCIENCE

Abnormal medial prefrontal cortex connectivity and defective fear extinction in the presymptomatic G93A SOD1 mouse model of ALS

(2008) C. Sgobio et al.   GENES BRAIN AND BEHAVIOR