Марк Готкин

Научные публикации

• Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
• DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
• Computing linkage disequilibrium aware genome embeddings using autoencoders
• Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS
• Peribulbar Corticosteroids for Ocular Myasthenia Gravis
• The cycad genotoxin methylazoxymethanol, linked to Guam ALS/PDC, induces transcriptional mutagenesis
• Tofacitinib-induced progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome
• Genetic variability in sporadic amyotrophic lateral sclerosis
• Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
• Safety and efficacy of first-in-man intrathecal injection of human astrocytes (AstroRx®) in ALS patients: phase I/IIa clinical trial results
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
• Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
• NOS1AP is a novel molecular target and critical factor in TDP-43 pathology
• Pearls & Oy-sters: Reversible Postpartum Pseudocoma State Associated With Magnesium Therapy: A Report of 2 Cases
• The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
• Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
• Predicting functional impairment trajectories in amyotrophic lateral sclerosis: a probabilistic, multifactorial model of disease progression
• Common genetic basis of ALS patients and soccer players may contribute to disease risk
• TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
• Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
• Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
• Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
• Liquid biopsy reveals collateral tissue damage in cancer
• Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
• Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
• An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients
• Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
• A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
• Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease
• Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
• The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
• Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
• Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
• ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
• The NEALS primary lateral sclerosis registry
• Description of 3 patients with myasthenia gravis and COVID-19
• Amyotrophic lateral sclerosis and intestinal microbiota-toward establishing cause and effect
• Reader response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
• Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
• Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
• Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia
• Potential roles of gut microbiome and metabolites in modulating ALS in mice
• The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
• The palmomental reflex predicts earlier corticobulbar involvement in ALS
• Hope and self-efficacy are associated with better satisfaction with life in people with ALS
• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
• Reconsidering the causality of TIA1 mutations in ALS
• Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
• Selective Unidirectional Horizontal Saccadic Paralysis From Acute Ipsilateral Pontine Stroke: Response
• Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells
• Using Advanced Imaging Methods to Study Neurolathyrism
• Cameraman's Foot
• Relative preservation of finger flexion in amyotrophic lateral sclerosis
• Safety and Clinical Effects of Mesenchymal Stem Cells Secreting Neurotrophic Factor Transplantation in Patients With Amyotrophic Lateral Sclerosis: Results of Phase 1/2 and 2a Clinical Trials
• Corrigendum to "Presymptomatic treatment with acetylcholinesterase antisense oligonucleotides prolongs survival in ALS (G93A-SOD1) mice"
• Dynamic MRI testing of the cervical spine has prognostic significance in patients with progressive upper-limb distal weakness and atrophy
• Triathletes are over-represented in a population of patients with ALS
• Presymptomatic treatment with acetylcholinesterase antisense oligonucleotides prolongs survival in ALS (G93A-SOD1) mice
• Rare combination of myasthenia and motor neuronopathy, responsive to Msc-Ntf stem cell therapy
• Effect of neck flexion on somatosensory and motor evoked potentials in Hirayama disease
• Central nervous system vasculitis
• Neurologic manifestations of systemic immunopathological diseases
• Hypnotic relaxation vs amitriptyline for tension-type headache: let the patient choose
• Myasthenia gravis-associated neuromyelitis optica-like disease: an immunological link between the central nervous system and muscle?
• Limbic encephalitis presenting as a post-partum psychiatric condition
• Post infectious CNS disorders: towards a unified approach
• Education research: assessment of neurology resident clinical competencies in the neurology clinic
• Neuromyelitis optica and the Optic Neuritis Treatment Trial
• Rating the approachability of faces in ALS
• Increased severity over generations of Charcot-Marie-Tooth disease type 1A
• Acute disseminating encephalomyelitis in neuromyelitis optica: closing the floodgates
• Re: Recanalization after intravenous thrombolysis: does a recanalization time window exist?
• The protective effect of risk factors against stroke severity
• Clinical differentiation between primary lateral sclerosis and upper motor neuron predominant amyotrophic lateral sclerosis
• Hemipseudoathetosis due to a hemorrhage at the cervicomedullary junction
• Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment
• Vascular risk factors and cognitive decline among elderly male twins
• Prior TIA, lipid-lowering drug use, and physical activity decrease ischemic stroke severity
• Probable medication-overuse headache: the effect of a 2-month drug-free period
• Now dear, I have a headache! Immediate improvement of cluster headaches after sexual activity
• Occurrence of CNS demyelinating disease in patients with myasthenia gravis
• Lack of hemispheric localizing value of the palmomental reflex
• Emergent stenting to treat patients with carotid artery dissection: clinically and radiologically directed therapeutic decision making