Lista de obras - Alexander M Rossor - Dominio Público Uruguay

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

artículo científico publicado en 2017

A diagnostic conundrum.

artículo científico publicado en 2018

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease

artículo científico publicado en 2017

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

artículo científico publicado en 2012

A practical approach to the genetic neuropathies.

artículo científico

Antisense oligonucleotides and other genetic therapies made simple.

artículo científico publicado en 2018

Appearance of anti-NMDAR antibodies after plasma exchange and total removal of malignant ovarian teratoma in a patient with paraneoplastic limbic encephalopathy ⬇️

artículo científico publicado el 24 de marzo de 2011

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

artículo científico publicado en 2019

Axonal transport and neurological disease

artículo científico publicado en 2019

BAG3 mutations: another cause of giant axonal neuropathy

artículo científico publicado en 2012

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

artículo científico publicado en 2019

CNS phenotype in X linked Charcot- Marie-Tooth disease

scientific article published on 05 December 2018

Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Charcot-Marie-Tooth disease and related disorders: an evolving landscape

scientific article published on 01 October 2019

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

scientific article published on 01 January 2019

Clinical and genetic characterization of leukoencephalopathies in adults

artículo científico publicado en 2017

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

artículo científico

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

artículo científico publicado en 2018

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

artículo científico publicado en 2017

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

scientific article published on 17 April 2019

Diagnosis of amyloid neuropathy

scientific article published on 30 December 2018

Expanding the spectrum of genes responsible for hereditary motor neuropathies

artículo científico publicado en 2019

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X

artículo científico publicado en 2019

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

article

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

artículo científico publicado en 2017

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

scientific article published on 19 August 2019

High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy.

artículo científico publicado en 2017

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

artículo científico publicado en 2017

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

artículo científico publicado en 2017

Humans: the ultimate animal models

artículo científico publicado en 2020

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

artículo científico publicado en 2018

Knee bobbing in Charcot–Marie–Tooth disease: Figure 1 ⬇️

artículo científico publicado el 1 de junio de 2012

Left ventricular apical ballooning (takotsubo cardiomyopathy) in thyrotoxicosis

artículo científico publicado en 2007

Leprosy in a patient infected with HIV.

artículo científico publicado en 2016

Lessons from late onset Charcot-Marie-Tooth disease

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

scientific article published on 04 March 2020

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

scientific article published on 17 September 2020

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

artículo científico publicado en 2013

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

artículo científico publicado en 2017

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

artículo científico publicado en 2017

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

scientific article published on 03 October 2019

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

artículo científico publicado en 2015

Olanzapine-induced chylomicronemia presenting as acute pancreatitis

artículo científico publicado en 2007

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus

artículo científico publicado en 2014

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

artículo científico publicado en 2017

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

artículo científico publicado en 2014

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

artículo científico publicado en 2016

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease

artículo científico publicado en 2016

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

scientific article published on 14 October 2019

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2013

Recent advances in the genetic neuropathies.

artículo científico publicado en 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling

artículo científico publicado en 2016

Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset

artículo científico publicado en 2017

Severe cognitive impairment in a patient with CMT2A

scientific article published on 26 March 2018

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

artículo científico publicado en 2019

The distal hereditary motor neuropathies.

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

scientific article published on 12 December 2019

Lista de obras de Alexander M Rossor

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

A diagnostic conundrum.

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

A practical approach to the genetic neuropathies.

Antisense oligonucleotides and other genetic therapies made simple.

Appearance of anti-NMDAR antibodies after plasma exchange and total removal of malignant ovarian teratoma in a patient with paraneoplastic limbic encephalopathy ⬇️

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

Axonal transport and neurological disease

BAG3 mutations: another cause of giant axonal neuropathy

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

CNS phenotype in X linked Charcot- Marie-Tooth disease

Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?

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

Charcot-Marie-Tooth disease and related disorders: an evolving landscape

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

Clinical and genetic characterization of leukoencephalopathies in adults

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

Diagnosis of amyloid neuropathy

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

Humans: the ultimate animal models

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Knee bobbing in Charcot–Marie–Tooth disease: Figure 1 ⬇️

Left ventricular apical ballooning (takotsubo cardiomyopathy) in thyrotoxicosis

Leprosy in a patient infected with HIV.

Lessons from late onset Charcot-Marie-Tooth disease

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

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

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

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

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

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Olanzapine-induced chylomicronemia presenting as acute pancreatitis

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease

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

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

Recent advances in the genetic neuropathies.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

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

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling

Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset

Severe cognitive impairment in a patient with CMT2A

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

The distal hereditary motor neuropathies.

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

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