Detalhe da pesquisa
1.
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Brain
; 146(12): 5044-5059, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040034
2.
H3 G34-mutant high-grade gliomas: integrated clinical, imaging and pathological characterisation of a single-centre case series.
Acta Neurochir (Wien)
; 165(6): 1615-1633, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929449
3.
Inter-dural spinal cyst with acute thoracic compressive myelopathy: anatomical aspects of spinal dura, case report and literature review.
Br J Neurosurg
; 37(6): 1567-1571, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050723
4.
IgG4-related hypertrophic pachymeningitis with chronic subdural haematoma.
Pract Neurol
; 23(5): 441-445, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460210
5.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616428
6.
Fatal thrombolysis-related intracerebral haemorrhage associated with amyloid-ß-related angiitis in a middle-aged patient - case report and literature review.
BMC Neurol
; 22(1): 500, 2022 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564732
7.
A novel case of paravertebral glomangiomyomatosis.
Br J Neurosurg
; : 1-6, 2022 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379054
8.
Prolactinoma in childhood and adolescence-Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta-analysis.
Clin Endocrinol (Oxf)
; 94(3): 413-423, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340135
9.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
10.
High grade gliomas in young children: The South Thames Neuro-Oncology unit experience and recent advances in molecular biology and targeted therapies.
Pediatr Hematol Oncol
; 38(8): 707-721, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900873
11.
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
Acta Neuropathol
; 139(2): 277-286, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732806
12.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
J Inherit Metab Dis
; 43(5): 1002-1013, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187699
13.
Radiological pseudoprogression post-radiotherapy in a child with pineal germ cell tumour.
Pediatr Blood Cancer
; 67(7): e28407, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32426927
14.
Spontaneous tension pneumocephalus and pneumoventricle in ecchordosis physaliphora: case report of a rare presentation and review of the literature.
Br J Neurosurg
; 34(5): 537-542, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079493
15.
Comparison of clinical and neuropathological diagnoses of neurodegenerative diseases in two centres from the Brains for Dementia Research (BDR) cohort.
J Neural Transm (Vienna)
; 126(3): 327-337, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730007
16.
Variably protease-sensitive prionopathy mimicking frontotemporal dementia.
Neuropathology
; 39(2): 135-140, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847986
17.
Is it possible to achieve long-term survival in relapsed intracranial non-germinomatous germ cell tumours?
Pediatr Blood Cancer
; 70(1): e29839, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35735220
18.
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Pediatr Nephrol
; 33(3): 439-446, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032433
19.
Posterior fossa arachnoid cyst causing torticollis and gastro-oesophageal reflux in an infant.
Childs Nerv Syst
; 34(12): 2519-2523, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30062591
20.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586