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The Genetics of Charcot-Marie-Tooth Disease.
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- Current Medical Literature: Neurology, 2012, v. 28, n. 1, p. 1
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- Article
Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich's Ataxia.
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- Tomography: A Journal for Imaging Research, 2021, v. 7, n. 4, p. 915, doi. 10.3390/tomography7040076
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- Publication type:
- Article
DNMT1‐associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype–phenotype correlation.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 508, doi. 10.1111/jns.12560
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- Publication type:
- Article
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 433, doi. 10.1111/jns.12409
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- Publication type:
- Article
Clinical spectrum of AIFM1‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 348, doi. 10.1111/jns.12348
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- Article
Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 219, doi. 10.1111/jns.12221
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- Publication type:
- Article
SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient.
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- Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 86, doi. 10.1111/jns.12123
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- Publication type:
- Article
The impact of headache disorders: a prospective analysis of headache referrals to outpatient and inpatient neurology and emergency services in an Irish University teaching hospital.
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- Irish Journal of Medical Science, 2024, v. 193, n. 1, p. 397, doi. 10.1007/s11845-023-03425-3
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- Article
Headache in the neurology clinic: a 2-year audit.
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- Irish Journal of Medical Science, 2021, v. 190, n. 3, p. 1143, doi. 10.1007/s11845-020-02416-y
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- Article
PCB pollution continues to impact populations of orcas and other dolphins in European waters.
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- Scientific Reports, 2016, p. 18573, doi. 10.1038/srep18573
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- Article
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.
- Published in:
- 2017
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- Publication type:
- journal article
Age- and sex-specific survivorship of the Southern Hemisphere long-finned pilot whale (Globicephala melas edwardii).
- Published in:
- Journal of Mammalogy, 2023, v. 104, n. 1, p. 39, doi. 10.1093/jmammal/gyac085
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- Article
Sexual maturation in male long-finned pilot whales (Globicephala melas edwardii): defining indicators of sexual maturity.
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- Journal of Mammalogy, 2019, v. 100, n. 4, p. 1387, doi. 10.1093/jmammal/gyz086
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- Publication type:
- Article
A novel locus for episodic ataxia:UBR4 the likely candidate.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 505, doi. 10.1038/ejhg.2013.173
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- Article
Criteria for assessing maturity of skulls in the common dolphin, Delphinus sp., from New Zealand waters.
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- Marine Mammal Science, 2015, v. 31, n. 3, p. 1077, doi. 10.1111/mms.12229
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- Publication type:
- Article
TAXONOMIC STATUS AND GEOGRAPHICAL CRANIAL VARIATION OF COMMON DOLPHINS ( DELPHINUS) IN THE EASTERN NORTH ATLANTIC.
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- Marine Mammal Science, 2006, v. 22, n. 3, p. 573, doi. 10.1111/j.1748-7692.2006.00037.x
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- Publication type:
- Article
Population structure and genetic connectivity reveals distinctiveness of Irish harbour seals (Phoca vitulina) and implications for conservation management.
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- Aquatic Conservation, 2023, v. 33, n. 2, p. 160, doi. 10.1002/aqc.3909
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- Publication type:
- Article
The conservation of the endangered Mediterranean common dolphin (Delphinus delphis): Current knowledge and research priorities.
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- Aquatic Conservation, 2021, v. 31, p. 110, doi. 10.1002/aqc.3538
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- Publication type:
- Article
Conservation management of common dolphins: Lessons learned from the North‐East Atlantic.
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- Aquatic Conservation, 2021, v. 31, p. 137, doi. 10.1002/aqc.3212
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- Publication type:
- Article
Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 258, doi. 10.1002/mdc3.12396
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- Publication type:
- Article
Microplastics in Eurasian otter (Lutra lutra) spraints and their potential as a biomonitoring tool in freshwater systems.
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- Ecosphere, 2022, v. 13, n. 7, p. 1, doi. 10.1002/ecs2.3955
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- Publication type:
- Article
Frankenstein in Baghdad: Human Conditions, or Conditions of Being Human.
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- Science Fiction Studies, 2018, v. 45, n. 2, p. 273, doi. 10.5621/sciefictstud.45.2.0273
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- Publication type:
- Article
"Iraqi SF" at the London Literature Festival: Living in Future Times, October 2016.
- Published in:
- 2017
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- Letter to the Editor
POLR3A-related disorders: expanding the clinical phenotype.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3635, doi. 10.1007/s00415-024-12265-9
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- Publication type:
- Article
Correction to: Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
- Published in:
- 2021
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- Correction Notice
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 10, p. 3897, doi. 10.1007/s00415-021-10507-8
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- Publication type:
- Article
What Caused the UK's Largest Common Dolphin (<i>Delphinus delphis</i>) Mass Stranding Event?
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060953
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- Publication type:
- Article
A smartphone intervention for adolescent obesity: study protocol for a randomised controlled noninferiority trial.
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- Trials, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1745-6215-15-43
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- Publication type:
- Article
A smartphone intervention for adolescent obesity: study protocol for a randomised controlled non-inferiority trial.
- Published in:
- 2014
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- Publication type:
- journal article
Single-pot derivatisation strategy for enhanced gliotoxin detection by HPLC and MALDI-ToF mass spectrometry.
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- Analytical & Bioanalytical Chemistry, 2012, v. 401, n. 8, p. 2519, doi. 10.1007/s00216-011-5344-1
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- Publication type:
- Article
Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland.
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- Cerebellum, 2024, v. 23, n. 4, p. 1328, doi. 10.1007/s12311-023-01640-3
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- Article
The Cost of Living with Inherited Ataxia in Ireland.
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- Cerebellum, 2022, v. 21, n. 2, p. 280, doi. 10.1007/s12311-021-01271-6
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- Publication type:
- Article
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.
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- Cerebellum, 2021, v. 20, n. 1, p. 54, doi. 10.1007/s12311-020-01180-0
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- Publication type:
- Article
External morphology of the short-beaked common dolphin, Delphinus delphis: growth, allometric relationships and sexual dimorphism.
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- Acta Zoologica, 2006, v. 87, n. 4, p. 315, doi. 10.1111/j.1463-6395.2006.00245.x
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- Publication type:
- Article
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity.
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- NeuroMolecular Medicine, 2015, v. 17, n. 1, p. 47, doi. 10.1007/s12017-014-8339-1
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- Article
BAG3 mutations: another cause of giant axonal neuropathy.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 210, doi. 10.1111/j.1529-8027.2012.00409.x
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- Publication type:
- Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 201, doi. 10.1111/j.1529-8027.2012.00400.x
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- Publication type:
- Article
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 3, p. 191, doi. 10.1111/j.1529-8027.2011.00350.x
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- Publication type:
- Article
A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
- Published in:
- 2011
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- Publication type:
- Journal Article
Phenotype expression in women with CMT1X.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 102, doi. 10.1111/j.1529-8027.2011.00332.x
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- Publication type:
- Article
A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 65, doi. 10.1111/j.1529-8027.2011.00321.x
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- Publication type:
- Article
Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 1, doi. 10.1111/j.1529-8027.2011.00324.x
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- Publication type:
- Article
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 26, doi. 10.1002/jmd2.12146
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- Article
Reproductive biology of male common dolphins (Delphinus delphis) in New Zealand waters.
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- Marine Biology, 2023, v. 170, n. 12, p. 1, doi. 10.1007/s00227-023-04266-5
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- Publication type:
- Article
Reproductive biology of female common dolphins (Delphinus delphis) in New Zealand waters.
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- Marine Biology, 2022, v. 169, n. 12, p. 1, doi. 10.1007/s00227-022-04139-3
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- Publication type:
- Article
Using emerging hot spot analysis of stranding records to inform conservation management of a data-poor cetacean species.
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- Biodiversity & Conservation, 2020, v. 29, n. 2, p. 643, doi. 10.1007/s10531-019-01903-8
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- Publication type:
- Article
Asymmetric sensory ganglionopathy: A case series.
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- Muscle & Nerve, 2013, v. 48, n. 1, p. 145, doi. 10.1002/mus.23772
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- Publication type:
- Article
Unintended effects of orphan product designation for rare neurological diseases.
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- Annals of Neurology, 2012, v. 72, n. 4, p. 481, doi. 10.1002/ana.23672
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- Publication type:
- Article
Microplastics in Freshwater Biota: A Critical Review of Isolation, Characterization, and Assessment Methods.
- Published in:
- Global Challenges, 2020, v. 4, n. 6, p. 1, doi. 10.1002/gch2.201800118
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- Publication type:
- Article
Exploring implementation of the Careful Nursing Philosophy and Professional Practice Model<sup>©</sup> in hospital‐based practice.
- Published in:
- Journal of Nursing Management, 2018, v. 26, n. 3, p. 263, doi. 10.1111/jonm.12542
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- Publication type:
- Article