Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Eur J Neurol
; 31(1): e16069, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754769
3.
Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland.
Cerebellum
; 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38010570
4.
DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation.
J Peripher Nerv Syst
; 28(3): 508-512, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199681
5.
The Cost of Living with Inherited Ataxia in Ireland.
Cerebellum
; 21(2): 280-296, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34228323
6.
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.
Cerebellum
; 20(1): 54-61, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816195
7.
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
J Peripher Nerv Syst
; 25(4): 433-437, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808377
8.
Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
J Peripher Nerv Syst
; 24(4): 348-353, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31523922
9.
Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
J Peripher Nerv Syst
; 22(3): 219-223, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544110
10.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
; 138(Pt 2): 293-310, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497877
11.
Hypoglossal palsy from an atlanto-axial synovial cyst.
Pract Neurol
; 20(5): 427-428, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366594
12.
Scleromyxoedema, blistering lesions and progressive sensorimotor neuropathy in Waldenström's macroglobulinaemia.
Pract Neurol
; 2020 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855210
13.
A pilot study of proximal strength training in Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 19(4): 328-32, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25582960
14.
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.
Ir J Med Sci
; 193(1): 397-405, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369930
15.
Unintended effects of orphan product designation for rare neurological diseases.
Ann Neurol
; 72(4): 481-90, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23109143
16.
Asymmetric sensory ganglionopathy: a case series.
Muscle Nerve
; 48(1): 145-50, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23744601
17.
Frequency of inter-specialty consensus decisions and adherence to advice following discussion at a weekly neurovascular multidisciplinary meeting.
Ir J Med Sci
; 192(6): 3051-3062, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081289
18.
Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis.
PLoS One
; 18(3): e0281156, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36893151
19.
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
J Neurol Neurosurg Psychiatry
; 83(12): 1204-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22851605
20.
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
J Neurol Neurosurg Psychiatry
; 83(7): 706-10, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577229