Cargando…

An observational study of asymmetry in CMT1A

Detalles Bibliográficos
Autores principales:	Pelayo-Negro, Ana L, Carr, Aisling S, Laura, Matilde, Skorupinska, Mariola, Reilly, Mary M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2015
Materias:	PostScript
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413808/ https://www.ncbi.nlm.nih.gov/pubmed/25313262 http://dx.doi.org/10.1136/jnnp-2014-309096

Ejemplares similares

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease
por: Holmes, Sarah, et al.
Publicado: (2019)

Observations suggesting bioactive Fgf15 is not present in mouse blood
por: Rudling, Mats
Publicado: (2014)

Prognostic relationship of neurofilaments, CHIT1, YKL-40 and MCP-1 in amyotrophic lateral sclerosis
por: Masrori, Pegah, et al.
Publicado: (2022)

When neglect is neglected: NIHSS observational measure lacks sensitivity in identifying post-stroke unilateral neglect
por: Moore, Margaret Jane, et al.
Publicado: (2019)

Treatment of life-threatening digoxin toxicity with digoxin-specific antibody fragments: results from a prospective, non-interventional observational UK patient registry study
por: Thomas, Emma, et al.
Publicado: (2023)

Intestinal resection rates in Crohn’s disease decline across two different epidemiological areas: a consistent observation not merely due to introduction of anti-TNFα
por: Beelen, Evelien M J, et al.
Publicado: (2020)

Letter to the Editor: In response to a recent non-inferiority trial of bupivacaine alone versus liposomal bupivacaine plus bupivacaine in interscalene blocks for total shoulder arthroplasty
por: Winston, Roy, et al.
Publicado: (2023)

Hepatic inflammasome activation as origin of Interleukin-1α and Interleukin-1β in liver cirrhosis
por: Praktiknjo, Michael, et al.
Publicado: (2021)

COVID-19 vaccine given to children with comorbidities in England, December 2020–June 2021
por: Aiano, Felicity, et al.
Publicado: (2022)

HCCR-1 for detecting small hepatocellular carcinoma latent in a cirrhotic liver: a prospective cohort study
por: Jirun, Peng, et al.
Publicado: (2012)

Health burdens of uranium miners will extend beyond the radiation exposure compensation act deadline
por: Kelly-Reif, Kaitlin, et al.
Publicado: (2022)

Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
por: Chan, Sophelia Hoi-Shan, et al.
Publicado: (2021)

Pregnancy outcomes in patients exposed to interferon beta-1b
por: Romero, Rebecca S, et al.
Publicado: (2015)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
por: O’Connor, Emer, et al.
Publicado: (2018)

Phenotypic presentations of paraneoplastic neuropathies associated with MAP1B-IgG
por: Jitprapaikulsan, Jiraporn, et al.
Publicado: (2020)

RFC1-related ataxia is a mimic of early multiple system atrophy
por: Sullivan, Roisin, et al.
Publicado: (2021)

Comparison of the pain experienced with anterior nasal swabs and nose and throat swabs in children
por: Harwood, Rachel, et al.
Publicado: (2022)

Monitoring the SPREAD of the SARS-CoV-2 lineage B.1.621 in Udine, Italy
por: Mio, Catia, et al.
Publicado: (2022)

Rare APC promoter 1B variants in gastric cancer kindreds unselected for fundic gland polyposis
por: Dixon, Katherine, et al.
Publicado: (2021)

SARS-COV-2 pandemic: establishing three risk levels for 19 Italian regions and two autonomous provinces
por: Messori, Andrea, et al.
Publicado: (2022)

Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction
por: McCombe, Pamela A, et al.
Publicado: (2019)

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
por: Taiana, Michela, et al.
Publicado: (2022)

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
por: Hainque, Elodie, et al.
Publicado: (2019)

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy
por: Cortese, Andrea, et al.
Publicado: (2017)

Acute haemorrhagic leucoencephalitis as clinical manifestation of MOG antibody-associated disease
por: Skarsta, Laura, et al.
Publicado: (2023)

Y(90)-radioembolisation in hepatocellular carcinoma induces immune responses calling for early treatment with multiple checkpoint blockers
por: Rivoltini, Licia, et al.
Publicado: (2023)

Combined effect of anti-BAG3 and anti-PD-1 treatment on macrophage infiltrate, CD8(+) T cell number and tumour growth in pancreatic cancer
por: Iorio, Vittoria, et al.
Publicado: (2018)

Haematology patients infected with SARS-CoV-2, pretreated with eculizumab or siltuximab, develop oligosymptomatic disease
por: Iluta, Sabina, et al.
Publicado: (2022)

Letter to the editor: vaccination against upper respiratory infections is a matter of survival in alcoholic liver disease
por: Itzel, Timo, et al.
Publicado: (2023)

Response to letter titled ‘Reduction of HbA1c in patients with type 2 diabetes following duodenal mucosal resurfacing: could other factors be at play?’
por: Bergman, JJGHM
Publicado: (2021)

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10
por: Carosi, Laura, et al.
Publicado: (2015)

The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis
por: Niu, Qi, et al.
Publicado: (2016)

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
por: Moore, Ursula R, et al.
Publicado: (2018)

Role of the gut microbiome in mediating lactose intolerance symptoms
por: Brandao Gois, M F, et al.
Publicado: (2022)

Neurological diseases and risk of mortality in patients with COVID-19 and SARS: a territory-wide study in Hong Kong
por: Fan, Florence Sin Ying, et al.
Publicado: (2021)

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP
por: Mol, Merel O., et al.
Publicado: (2021)

A novel use of arterial spin labelling MRI to demonstrate focal hypoperfusion in individuals with posterior cortical atrophy: a multimodal imaging study
por: Lehmann, Manja, et al.
Publicado: (2016)

Characteristics of ischaemic stroke associated with COVID-19
por: Beyrouti, Rahma, et al.
Publicado: (2020)

GBA variants influence cognitive status in amyotrophic lateral sclerosis
por: Canosa, Antonio, et al.
Publicado: (2022)

The importance of publishing research protocols for pharmacoeconomic studies
por: Dane, Aniek, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7i0965tgf5n13k0ng5e12ochd2