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  1. Article ; Online: Broadening the genetic spectrum of distal hereditary motor neuropathy.

    Rossor, Alexander M

    European journal of neurology

    2021  Volume 28, Issue 4, Page(s) 1104–1105

    MeSH term(s) Charcot-Marie-Tooth Disease ; Hereditary Sensory and Motor Neuropathy/genetics ; Humans
    Language English
    Publishing date 2021-02-01
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.14734
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  2. Article ; Online: One hundred years of shared interest.

    Rossor, Martin

    Journal of neurology, neurosurgery, and psychiatry

    2020  Volume 91, Issue 3, Page(s) 225–226

    MeSH term(s) History, 20th Century ; History, 21st Century ; Humans ; Neurology/history ; Neurosurgery/history ; Periodicals as Topic/history ; Psychiatry/history
    Language English
    Publishing date 2020-02-10
    Publishing country England
    Document type Historical Article ; Journal Article
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2019-321981
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  3. Article ; Online: Toxic neuropathies.

    Rossor, Alexander M / Manji, Hadi

    Current opinion in neurology

    2023  Volume 36, Issue 5, Page(s) 402–409

    Abstract: Purpose of review: Immunotherapy has had a significant impact on the treatment of an increasing number of cancers as well as in inflammatory, rheumatological and gastroenterological conditions.Recreational nitrous oxide use is now a global epidemic. ... ...

    Abstract Purpose of review: Immunotherapy has had a significant impact on the treatment of an increasing number of cancers as well as in inflammatory, rheumatological and gastroenterological conditions.Recreational nitrous oxide use is now a global epidemic. Linezolid is now recommended for the treatment of drug-resistant tuberculosis (TB); neuropathy is a significant cause of morbidity.Global warming will result in increasing toxin exposure, such as ciguatera, in previously unaffected areas.
    Recent findings: With increasing experience, the pathophysiology underlying the neuropathic complications of these drugs has become clear with guidelines now available, for the complications of immune check-point inhibitors and nitrous oxide toxicity. The optimum dose and duration of treatment for resistant TB with regimens, including linezolid, has been ascertained.
    Summary: Although neuropathic complications with immunotherapy are relatively rare, it is essential that they are recognized and treated early. Nitrous oxide toxicity should be in the differential diagnosis for all patients, particularly those of younger age, presenting with a neuropathy or myleo-neuropathy. Ciguatera toxicity is under recognized and its geographical spread will increase due to global warming. Further research is necessary on the mechanisms and treatment of both acute and chronic effects, which at present, are only symptomatic.
    MeSH term(s) Humans ; Ciguatera Poisoning ; Linezolid ; Nitrous Oxide/toxicity ; Polyneuropathies ; Immunotherapy
    Chemical Substances Linezolid (ISQ9I6J12J) ; Nitrous Oxide (K50XQU1029)
    Language English
    Publishing date 2023-08-02
    Publishing country England
    Document type Review ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001193
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  4. Article ; Online: Immune-mediated encephalitis.

    Rossor, Thomas / Lim, Ming

    Developmental medicine and child neurology

    2023  Volume 66, Issue 3, Page(s) 307–316

    Abstract: A neurological deterioration in a child presents a significant worry to the family and often a diagnostic challenge to the clinician. A dysregulated immune response is implicated in a wide and growing spectrum of neurological conditions. In this review ... ...

    Abstract A neurological deterioration in a child presents a significant worry to the family and often a diagnostic challenge to the clinician. A dysregulated immune response is implicated in a wide and growing spectrum of neurological conditions. In this review we consider the current paradigms in which immune-mediated encephalopathies are considered; the development of paediatric specific diagnostic criteria that facilitate early consideration and treatment of immune-mediated conditions and the limitations and potential developments in diagnostic testing. We consider the expanding phenotype of myelin oligodendrocyte glycoprotein antibody, the spectrum of virus-associated encephalopathy syndromes, and the strategies that have been employed to build an evidence base for the management of these rare conditions. Looking forward we explore the potential for advanced molecular investigations to improve our understanding of immune-mediated encephalitides and guide future treatment strategies. Recently characterized immune-mediated central nervous system disorders include new antibodies causing previously recognized phenotypes. Aggregation of conditions with similar clinical triggers, and characterization of unique imaging features in virus-associated encephalopathy syndromes. Immune treatment iscurrently guided by meta-analysis of individualized patient data and/or multi-national consensus.
    MeSH term(s) Child ; Humans ; Autoantibodies ; Brain Diseases ; Encephalitis/diagnosis ; Encephalitis/therapy ; Myelin-Oligodendrocyte Glycoprotein ; Nervous System Diseases ; Syndrome
    Chemical Substances Autoantibodies ; Myelin-Oligodendrocyte Glycoprotein
    Language English
    Publishing date 2023-07-12
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.15694
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  5. Article ; Online: Lessons from late onset Charcot-Marie-Tooth disease.

    Rossor, Alexander M

    Journal of the peripheral nervous system : JPNS

    2020  Volume 25, Issue 3, Page(s) 222

    MeSH term(s) Charcot-Marie-Tooth Disease ; Humans ; Neural Conduction ; Phenotype
    Language English
    Publishing date 2020-07-08
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1364009-4
    ISSN 1529-8027 ; 1085-9489
    ISSN (online) 1529-8027
    ISSN 1085-9489
    DOI 10.1111/jns.12400
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  6. Article ; Online: Blood biomarkers of peripheral neuropathy.

    Rossor, Alexander M / Reilly, Mary M

    Acta neurologica Scandinavica

    2022  Volume 146, Issue 4, Page(s) 325–331

    Abstract: Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and where there is significant axonal ... ...

    Abstract Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and where there is significant axonal damage. The development of ultrasensitive platforms for measuring serum proteins at the lower limit of detection of traditional ELISA techniques has transformed the field of blood biomarkers of peripheral neuropathy. A variety of blood biomarkers have been identified from inflammatory cytokines and apokines in diabetic neuropathy through to neuron-specific proteins such as neurofilament light chain, Schwann cell-specific proteins such as TMPRSS5 and microRNAs in other acquired and hereditary neuropathies. In this article, we review blood biomarkers of disease activity for the common subtypes of peripheral neuropathy including inflammatory demyelinating neuropathies, vasculitic neuropathy, diabetic neuropathy, chemotherapy-induced neuropathy and Charcot-Marie-Tooth disease and related disorders including TTR amyloidosis.
    MeSH term(s) Antineoplastic Agents ; Biomarkers ; Charcot-Marie-Tooth Disease/metabolism ; Cytokines ; Humans ; MicroRNAs
    Chemical Substances Antineoplastic Agents ; Biomarkers ; Cytokines ; MicroRNAs
    Language English
    Publishing date 2022-05-25
    Publishing country Denmark
    Document type Journal Article ; Review
    ZDB-ID 90-5
    ISSN 1600-0404 ; 0001-6314
    ISSN (online) 1600-0404
    ISSN 0001-6314
    DOI 10.1111/ane.13650
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  7. Article ; Online: Neurological update: hereditary neuropathies.

    Kramarz, Caroline / Rossor, Alexander M

    Journal of neurology

    2022  Volume 269, Issue 9, Page(s) 5187–5191

    Abstract: In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in ... ...

    Abstract In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis.
    MeSH term(s) Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/therapy ; Hereditary Sensory and Motor Neuropathy/diagnosis ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans ; Liposomes ; Nanoparticles
    Chemical Substances Lipid Nanoparticles ; Liposomes
    Language English
    Publishing date 2022-05-21
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-022-11164-1
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  8. Article ; Online: OMAS editorial.

    Rossor, Thomas / Lim, Ming

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2022  Volume 41, Page(s) A3

    Language English
    Publishing date 2022-11-04
    Publishing country England
    Document type Editorial
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2022.11.001
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  9. Article ; Online: Neurogenic arthrogryposis and the power of phenotyping.

    Rossor, Alexander M / Reilly, Mary M

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 10, Page(s) 1062–1069

    Abstract: In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of this ... ...

    Abstract In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of this disorder and how this has facilitated the identification of the genetic cause of SMALED2. We also review the similarities and differences between the human SMALED phenotype and mouse models and how this has informed our understanding of the potential mechanisms governing motor neuron loss in these disorders.
    MeSH term(s) Animals ; Arthrogryposis/genetics ; Humans ; Mice ; Microtubule-Associated Proteins/genetics ; Motor Neurons ; Muscle, Skeletal ; Muscular Atrophy/pathology ; Muscular Atrophy, Spinal/genetics ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Spinal Muscular Atrophies of Childhood/genetics
    Chemical Substances Microtubule-Associated Proteins
    Language English
    Publishing date 2021-10-09
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.07.399
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  10. Article ; Online: The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved.

    Record, Christopher J / Laura, Matilde / Rossor, Alexander M / Reilly, Mary M

    The Journal of biological chemistry

    2023  Volume 299, Issue 9, Page(s) 105180

    MeSH term(s) Humans ; Charcot-Marie-Tooth Disease/genetics ; Proteins ; Myelin Proteins/genetics
    Chemical Substances Proteins ; Myelin Proteins ; PMP22 protein, human
    Language English
    Publishing date 2023-09-11
    Publishing country United States
    Document type Letter
    ZDB-ID 2997-x
    ISSN 1083-351X ; 0021-9258
    ISSN (online) 1083-351X
    ISSN 0021-9258
    DOI 10.1016/j.jbc.2023.105180
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