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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.

Annals of clinical and translational neurology
2024-01 | Journal article
DOI: 10.1002/acn3.51979
PMID: 38173284
Contributors: Doherty CM; Morrow JM; Zuccarino R; Howard P; Wastling S; Pipis M; Zafeiropoulos N; Stephens KJ; Grider T; Feely SME et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Brain : a journal of neurology
2024-01 | Journal article
DOI: 10.1093/brain/awad436
PMID: 38193360
Contributors: Currò R; Dominik N; Facchini S; Vegezzi E; Sullivan R; Galassi Deforie V; Fernández-Eulate G; Traschütz A; Rossi S; Garibaldi M et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Journal of the peripheral nervous system : JPNS
2023-12 | Journal article
DOI: 10.1111/jns.12611
PMID: 38131667
Contributors: Pernice HF; O'Donnell LF; Rossor AM; Laura M; Record CJ; Skorupinska M; Blake J; Poh R; Polke J; Reilly MM
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Brain : a journal of neurology
2023-12 | Journal article
DOI: 10.1093/brain/awad328
PMID: 37769650
PMC: PMC10689924
Contributors: Lischka A; Eggermann K; Record CJ; Dohrn MF; Laššuthová P; Kraft F; Begemann M; Dey D; Eggermann T; Beijer D et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Nutritional peripheral neuropathies.

Journal of neurology, neurosurgery, and psychiatry
2023-12 | Journal article
DOI: 10.1136/jnnp-2022-329849
PMID: 37536924
Contributors: Kramarz C; Murphy E; Reilly MM; Rossor AM
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Movement disorders : official journal of the Movement Disorder Society
2023-12 | Journal article
DOI: 10.1002/mds.29680
PMID: 38054570
Contributors: Quartesan I; Vegezzi E; Currò R; Heslegrave A; Pisciotta C; Iruzubieta P; Salvalaggio A; Fernández-Eulate G; Dominik N; Rugginini B et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.

Journal of neurology, neurosurgery, and psychiatry
2023-11 | Journal article
DOI: 10.1136/jnnp-2023-332454
PMID: 37979968
Contributors: O'Donnell LF; Pipis M; Thornton JS; Kanber B; Wastling S; McDowell A; Zafeiropoulos N; Laura M; Skorupinska M; Record CJ et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Trigeminal neuropathy from root entry zone infarction.

Practical neurology
2023-11 | Journal article
DOI: 10.1136/pn-2023-003823
PMID: 37524437
Contributors: Farag M; Kafiabadi S; Roy A; Rossor AM; Holmes P
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Brain : a journal of neurology
2023-10 | Journal article
DOI: 10.1093/brain/awad187
PMID: 37284795
PMC: PMC10545504
Contributors: Record CJ; Skorupinska M; Laura M; Rossor AM; Pareyson D; Pisciotta C; Feely SME; Lloyd TE; Horvath R; Sadjadi R et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Brain : a journal of neurology
2023-10 | Journal article
DOI: 10.1093/brain/awad203
PMID: 37337674
PMC: PMC10545524
Contributors: Pipis M; Won S; Poh R; Efthymiou S; Polke JM; Skorupinska M; Blake J; Rossor AM; Moran JJ; Munot P et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

European journal of neurology
2023-09 | Journal article
DOI: 10.1111/ene.16063
PMID: 37772343
Contributors: Cortese A; Currò R; Ronco R; Blake J; Rossor AM; Bugiardini E; Laurà M; Warner T; Yousry T; Poh R et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved.

The Journal of biological chemistry
2023-09 | Journal article
DOI: 10.1016/j.jbc.2023.105180
PMID: 37703609
PMC: PMC10502360
Contributors: Record CJ; Laura M; Rossor AM; Reilly MM
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.

Neuromuscular disorders : NMD
2023-08 | Journal article
DOI: 10.1016/j.nmd.2023.08.010
PMID: 37704504
Contributors: Esteller D; Morrow J; Alonso-Pérez J; Reyes D; Carbayo A; Bisogni G; Cateruccia M; Monforte M; Tasca G; Alangary A et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Toxic neuropathies.

Current opinion in neurology
2023-08 | Journal article
DOI: 10.1097/wco.0000000000001193
PMID: 37639472
Contributors: Rossor AM; Manji H
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Biallelic Loss-of-Function Variants in <i>BICD1</i> Are Associated with Peripheral Neuropathy and Hearing Loss.

International journal of molecular sciences
2023-05 | Journal article
DOI: 10.3390/ijms24108897
PMID: 37240244
PMC: PMC10219021
Contributors: Hirsch Y; Chung WK; Novoselov S; Weimer LH; Rossor A; LeDuc CA; McPartland AJ; Cabrera E; Ekstein J; Scher S et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Toxic neuropathies: a practical approach.

Practical neurology
2023-01 | Journal article
DOI: 10.1136/pn-2022-003444
PMID: 36697225
Contributors: Smyth D; Kramarz C; Carr AS; Rossor AM; Lunn MP
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.

PLoS genetics
2022-11 | Journal article
DOI: 10.1371/journal.pgen.1010477
PMID: 36350884
PMC: PMC9707796
Contributors: Shackleford G; Marziali LN; Sasaki Y; Claessens A; Ferri C; Weinstock NI; Rossor AM; Silvestri NJ; Wilson ER; Hurley E et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy.

European journal of neurology
2022-07 | Journal article
DOI: 10.1111/ene.15496
PMID: 35837802
PMC: PMC9796374
Contributors: Kapoor M; Carr A; Foiani M; Heslegrave A; Zetterberg H; Malaspina A; Compton L; Hutton E; Rossor A; Reilly MM et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy.

Journal of neurology, neurosurgery, and psychiatry
2022-07 | Journal article
DOI: 10.1136/jnnp-2022-329432
PMID: 35868853
Contributors: O'Donnell LF; Cortese A; Rossor AM; Laura M; Blake J; Skorupinska M; Lunn MP; Thornton JS; Currò R; Morrow JM et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

MPZ-T124M mouse model replicates human axonopathy and suggest alteration in axo-glia communication

2022-05 | Preprint
DOI: 10.1101/2022.05.09.491190
PPR: PPR495023
Contributors: Shackleford G; Marziali LN; Sasaki Y; Weinstock NI; Rossor AM; Silvestri NJ; Wilson ER; Hurley E; Kidd GJ; Manohar S et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Blood biomarkers of peripheral neuropathy.

Acta neurologica Scandinavica
2022-05-25 | Journal article
DOI: 10.1111/ane.13650
PMID: 35611606
Source: Self-asserted source
Alexander Rossor

Neurological update: hereditary neuropathies.

Journal of neurology
2022-05-21 | Journal article
DOI: 10.1007/s00415-022-11164-1
PMID: 35596796
Source: Self-asserted source
Alexander Rossor

Unusual upper limb features in SORD neuropathy.

Journal of the peripheral nervous system : JPNS
2022-04-13 | Journal article
DOI: 10.1111/jns.12492
PMID: 35419909
Source: Self-asserted source
Alexander Rossor

A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS
2021-12-09 | Journal article
DOI: 10.1111/jns.12477
PMID: 34851050
Source: Self-asserted source
Alexander Rossor

An approach to assessing immunoglobulin dependence in chronic inflammatory demyelinating inflammatory polyneuropathy.

Journal of the peripheral nervous system : JPNS
2021-10-20 | Journal article
DOI: 10.1111/jns.12470
PMID: 34637194
Source: Self-asserted source
Alexander Rossor

Neurogenic arthrogryposis and the power of phenotyping.

Neuromuscular disorders : NMD
2021-10-09 | Journal article
DOI: 10.1016/j.nmd.2021.07.399
PMID: 34736627
Source: Self-asserted source
Alexander Rossor

Charcot-Marie-Tooth disease type 2CC due to <i>NEFH</i> variants causes a progressive, non-length-dependent, motor-predominant phenotype.

Journal of neurology, neurosurgery, and psychiatry
2021-09-13 | Journal article
DOI: 10.1136/jnnp-2021-327186
PMID: 34518334
PMC: PMC8685631
Source: Self-asserted source
Alexander Rossor

IgG<sub>1</sub> pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality.

Journal of neurology, neurosurgery, and psychiatry
2021-08-16 | Journal article
DOI: 10.1136/jnnp-2021-326343
PMID: 34400540
PMC: PMC8458075
Source: Self-asserted source
Alexander Rossor

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.

Neurology
2021-05-24 | Journal article
DOI: 10.1212/wnl.0000000000012266
PMID: 34031204
Source: Self-asserted source
Alexander Rossor

RFC1 expansions are a common cause of idiopathic sensory neuropathy.

Brain : a journal of neurology
2021-05-09 | Journal article
DOI: 10.1093/brain/awab072
PMID: 33969391
Source: Self-asserted source
Alexander Rossor

IgG1 pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality

2021-02 | Preprint
DOI: 10.1101/2021.01.29.21250485
PPR: PPR276952
Contributors: Fehmi J; Davies AJ; Walters RJ; Lavin T; Keh R; Rossor AM; Munteanu T; Delanty N; Roberts R; Bâ–¡umer D et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Broadening the genetic spectrum of distal hereditary motor neuropathy.

European journal of neurology
2021-02-01 | Journal article
DOI: 10.1111/ene.14734
PMID: 33449405
Source: Self-asserted source
Alexander Rossor

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Brain : a journal of neurology
2020-12-01 | Journal article
DOI: 10.1093/brain/awaa323
PMID: 33415332
PMC: PMC7805791
Source: Self-asserted source
Alexander Rossor

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.

Journal of neurology, neurosurgery, and psychiatry
2020-09-17 | Journal article
DOI: 10.1136/jnnp-2020-323719
PMID: 32943585
Source: Self-asserted source
Alexander Rossor

Assessing non-Mendelian inheritance in inherited axonopathies.

Genetics in medicine : official journal of the American College of Medical Genetics
2020-08 | Journal article
DOI: 10.1038/s41436-020-0924-0
PMID: 32741968
PMC: PMC7710562
Contributors: Bis-Brewer DM; Gan-Or Z; Sleiman P; Inherited Neuropathy Consortium; Hakonarson H; Fazal S; Courel S; Cintra V; Tao F; Estiar MA et al.
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Peripheral nerve neurolymphomatosis: clinical features, treatment and outcomes.

Muscle & nerve
2020-08-12 | Journal article
DOI: 10.1002/mus.27045
PMID: 32786031
Source: Self-asserted source
Alexander Rossor

Humans: the ultimate animal models.

Journal of neurology, neurosurgery, and psychiatry
2020-08-07 | Journal article
DOI: 10.1136/jnnp-2020-323016
PMID: 32769113
PMC: PMC7415072
Source: Self-asserted source
Alexander Rossor

Lessons from late onset Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS
2020-07-08 | Journal article
DOI: 10.1111/jns.12400
PMID: 32639075
Source: Self-asserted source
Alexander Rossor

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics
2020-05-04 | Journal article
DOI: 10.1038/s41588-020-0615-4
PMID: 32367058
Source: Self-asserted source
Alexander Rossor

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.

Acta neuropathologica communications
2020-03-17 | Journal article
DOI: 10.1186/s40478-020-00909-6
PMID: 32183910
PMC: PMC7076953
Source: Self-asserted source
Alexander Rossor

Motor neuropathy with conduction block due to pan-neurofascin antibodies in a patient with chronic lymphocytic leukemia.

Muscle & nerve
2020-03-04 | Journal article
DOI: 10.1002/mus.26851
PMID: 32129901
Source: Self-asserted source
Alexander Rossor

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Brain : a journal of neurology
2020-02-01 | Journal article
DOI: 10.1093/brain/awz418
PMID: 32040566
Source: Self-asserted source
Alexander Rossor

Are we prepared for clinical trials in Charcot-Marie-Tooth disease?

Brain research
2019-12-30 | Journal article
DOI: 10.1016/j.brainres.2019.146625
PMID: 31899213
Source: Self-asserted source
Alexander Rossor

Thromboembolic risk with IVIg: Incidence and risk factors in inflammatory neuropathy patients.

Neurology
2019-12-18 | Journal article
DOI: 10.1212/wnl.0000000000008742
PMID: 31852814
Source: Self-asserted source
Alexander Rossor

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.

Annals of clinical and translational neurology
2019-12-12 | Journal article
DOI: 10.1002/acn3.50965
PMID: 31833243
Source: Self-asserted source
Alexander Rossor

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology
2019-12-11 | Journal article
DOI: 10.1212/wnl.0000000000008672
PMID: 31827005
Source: Self-asserted source
Alexander Rossor

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

2019-11 | Preprint
DOI: 10.1101/854711
PPR: PPR103770
Contributors: Rossor A; Sleigh J; Groves M; Muntoni F; Reilly M; Hoogenraad C; Schiavo G
Source: Self-asserted source
Alexander Rossor via Europe PubMed Central

Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant?

Journal of the neurological sciences
2019-10-25 | Journal article
DOI: 10.1016/j.jns.2019.116527
PMID: 31677558
Source: Self-asserted source
Alexander Rossor

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.

Journal of the peripheral nervous system : JPNS
2019-10-14 | Journal article
DOI: 10.1111/jns.12350
PMID: 31583784
Source: Self-asserted source
Alexander Rossor

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.

Nature reviews. Neurology
2019-10-03 | Journal article
DOI: 10.1038/s41582-019-0254-5
PMID: 31582811
Source: Self-asserted source
Alexander Rossor
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Peer review (11 reviews for 6 publications/grants)

Review activity for Acta neuropathologica communications. (1)
Review activity for Cellular and molecular life sciences (1)
Review activity for Cellular and molecular life sciences (1)
Review activity for Journal of neurology. (5)
Review activity for neurogenetics (2)
Review activity for Neurotherapeutics. (1)
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