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Марк Готкин

Занимается активной исследовательской деятельностью, автор более 40 научных статей.
Получил награду от министерства здравоохранения Израиля за вклад в борьбу с БАС.

Отделение: Неврология
Должность: невролог
Языки: Английский, Иврит
Принимает: только взрослых
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Профессор Марк Готкин - старший врач отделений неврологии, директор Центра лечения бокового амиотрофического склероза.
Области специализации:

  • Боковой амиотрофический склероз
  • Клиническая неврология
  • Нейромышечные заболевания
  • Болезни костно-мышечной системы

Занимается активной исследовательской деятельностью, автор более 40 научных статей.
Получил награду от министерства здравоохранения Израиля за вклад в борьбу с БАС.

Научные публикации

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
A framework for sharing of clinical and genetic data for precision medicine applications
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
Показать ещё 78 статей Скрыть статьи
Заболевания
Боковой амиотрофический склероз
Нервно-мышечные заболевания
Синдром Ламберта-Итона
Процедуры
Электромиография

Новости

Мировые новости медицины BrainStorm получает одобрение FDA на проведение нового исследования препарата от БАС после неудачи в III фазе
Мировые новости медицины Оптимизм улучшает самочувствие при боковом амиотрофическом склерозе
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