Lista de obras - Martin Lammens - Dominio Público Uruguay

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

artículo científico publicado en 2019

A case of neuromuscular mimicry

artículo científico publicado en 2006

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

artículo científico publicado en 2010

A new phenotype of autosomal dominant nemaline myopathy

artículo científico publicado en 2002

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

artículo científico publicado en 2013

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

artículo científico publicado en 2014

Accuracy of Lipoarabinomannan and Xpert MTB/RIF Testing in Cerebrospinal Fluid To Diagnose Tuberculous Meningitis in an Autopsy Cohort of HIV-Infected Adults

artículo científico publicado en 2015

Acute disseminated encephalomyelitis associated with Borrelia burgdorferi

scientific article published on 01 May 2004

An Uncommon Presentation of Brain Metastases in a Lung Cancer Patient.

artículo científico publicado en 2015

Arachnoidal cyst arising from the oculomotor cistern

artículo científico publicado en 2015

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

artículo científico publicado en 2018

Bilateral intraneural perineurioma presenting as ulnar neuropathy at the elbow

scientific article published on 01 August 2004

Brain defects in infants with Potter syndrome (oligohydramnios sequence)

artículo científico publicado en 1993

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

artículo científico publicado en 2004

Carbogen breathing differentially enhances blood plasma volume and 5-fluorouracil uptake in two murine colon tumor models with a distinct vascular structure

artículo científico

Cardiac biplane strain imaging: initial in vivo experience.

artículo científico publicado en 2010

Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas revealed by comparative genomic hybridization.

artículo científico publicado en 2001

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

artículo científico publicado en 2001

Colloid cysts of the third ventricle: MR findings.

artículo científico publicado en 1990

Comments on Coggeshall et al., PAIN, 52 (1992) 233-242

artículo científico publicado en 1993

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.

artículo científico publicado en 2018

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

artículo científico publicado en 2005

Congenital monomelic muscular hypertrophy of the upper extremity

artículo científico publicado en 2009

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

artículo científico publicado en 2012

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

artículo científico publicado en 2009

Delayed intrauterine repair of an experimental spina bifida with a collagen biomatrix

artículo científico publicado en 2007

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

artículo científico publicado en 1994

Dendritic cell vaccination as postremission treatment to prevent or delay relapse in acute myeloid leukemia

artículo científico publicado en 2017

Desmoid tumors display a strong immune infiltration at the tumor margins and no PD-L1-driven immune suppression

artículo científico publicado en 2019

Development and developmental disorders of the human cerebellum ⬇️

artículo científico publicado el 1 de septiembre de 2003

Development of the human cerebellum and its disorders

artículo científico publicado en 2009

Differences in the Mitochondrial and Lipid Droplet Morphology in Female Office Workers With Trapezius Myalgia, Compared With Healthy Controls: A Muscle Biopsy Study

artículo científico publicado en 2019

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

artículo científico publicado en 2006

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.

artículo científico publicado en 2011

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

artículo científico publicado en 2010

Drop metastasis from pituitary adenoma. Case illustration

scientific article published on 01 October 2001

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

scientific article published on 21 September 2018

Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor

artículo científico publicado en 2014

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

artículo científico publicado en 2017

Extradural epidermoid tumor of the frontal bone

artículo científico publicado en 1991

Fetal akinesia sequence caused by nemaline myopathy

scientific article published on 01 April 1997

Further evidence for myelinated as well as unmyelinated fibre damage in a rat model of neuropathic pain

artículo científico publicado en 1992

Hemorrhagic colloid cyst: case report and review of the literature

artículo científico publicado en 2006

Heparan sulfate expression patterns in the amyloid deposits of patients with Alzheimer's and Lewy body type dementia

artículo científico publicado en 1993

Histological evaluation of acute covering of an experimental neural tube defect with biomatrices in fetal sheep

scientific article published on 01 January 2006

Hypothermia in three patients with multiple sclerosis

scientific article published on 01 January 1989

IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes.

artículo científico publicado en 2018

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

artículo científico publicado en 2009

In utero repair of an experimental neural tube defect in a chronic sheep model using biomatrices.

artículo científico publicado en 2005

Increased axonal ribosome numbers in CMT diseases

artículo científico publicado en 2011

Increased axonal ribosome numbers is an early event in the pathogenesis of amyotrophic lateral sclerosis

artículo científico publicado en 2014

Intestinal involvement in amyloidosis is a sequential process

artículo científico publicado en 2018

Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

artículo científico publicado en 2016

Late-onset post-irradiation vasculopathy of the posterior cerebral vasculature

artículo científico publicado en 2012

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

artículo científico publicado en 2016

Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP

scientific article published on 01 December 2005

Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome

artículo científico publicado en 2011

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

artículo científico publicado en 2012

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

artículo científico publicado en 2010

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma

artículo científico publicado en 2018

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

artículo científico publicado en 2001

Monosomy X and omphalocele

artículo científico publicado en 1997

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

artículo científico publicado en 2013

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

artículo científico publicado en 2013

Mutations in TPM2 and congenital fibre type disproportion

artículo científico publicado en 2012

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

artículo científico publicado en 2002

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

artículo científico publicado en 2009

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

artículo científico publicado en 2012

NADPH-diaphorase-containing neurons in cortex, subcortical white matter and neostriatum are selectively spared in Alzheimer's disease

artículo científico publicado en 1999

Neuroinflammation and Not Tauopathy Is a Predominant Pathological Signature of Nodding Syndrome

scientific article published on 01 November 2019

Neuroinflammation and structural injury of the fetal ovine brain following intra-amniotic Candida albicans exposure.

artículo científico publicado en 2016

Neuromuscular features in Marfan syndrome

artículo científico publicado en 2009

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

artículo científico publicado en 2009

Neuronal migration disorders in man.

artículo científico publicado en 2000

Neuropathology in classical and variant ataxia-telangiectasia

artículo científico publicado en 2011

Neurovascular intact muscle transposition for anal sphincter repair. Experimental model and experience with dynamic pacing

artículo científico publicado en 1995

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

artículo científico publicado en 2003

Nucleoplasmic LAP2alpha-lamin A complexes are required to maintain a proliferative state in human fibroblasts

artículo científico publicado en 2007

Pathogenesis of axonal dystrophy and demyelination in alphaA-crystallin-expressing transgenic mice

artículo científico publicado en 2003

Pathological findings in a patient with amyotrophic lateral sclerosis and multifocal motor neuropathy with conduction block

artículo científico publicado en 1996

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies

scientific article published on September 2010

Peripheral primitive neuroectodermal tumour of the cervix

artículo científico publicado en 2000

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2009

Polyneuropathy in lithium intoxication

artículo científico publicado en 1990

Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome

artículo científico publicado en 2002

Practical and reproducible estimation of myenteric interstitial cells of Cajal in the bowel for diagnostic purposes.

artículo científico publicado en 2016

Primary temporal bone secretory meningioma presenting as chronic otitis media

artículo científico publicado en 2008

Processing of nerve biopsies: a practical guide for neuropathologists

artículo científico publicado en 2012

Prognosis and treatment of FOLFOX therapy related interstitial pneumonia: a plea for multimodal immune modulating therapy in the respiratory insufficient patient

artículo científico

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins

artículo científico publicado en 2006

Pure autonomic failure: a new case with clinical, biochemical, and necropsy data.

artículo científico publicado en 1994

Purulent meningitis due to aspergillosis in a patient with systemic lupus erythematosus

artículo científico publicado en 1992

Quiz case of the month. Subacute necrotizing mitochondrial encephalopathy (Leigh disease)

scientific article published on 01 January 1997

RANK-RANKL Signaling in Cancer of the Uterine Cervix: A Review. ⬇️

artículo científico publicado en 2019

RANK/RANKL signaling inhibition may improve the effectiveness of checkpoint blockade in cancer treatment

artículo científico publicado en 2018

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

artículo científico publicado en 2015

Recurrent neuropathy associated with Ehlers-Danlos syndrome

scientific article published on 29 November 2005

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

article

Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology

artículo científico publicado en 2014

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity

artículo científico publicado en 2008

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

article

Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant

artículo científico publicado en 2008

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

artículo científico publicado en 2014

Symptomatic lipid storage in carriers for the PNPLA2 gene

artículo científico publicado en 2012

Symptomatic lipid storage in carriers for the PNPLA2 gene.

artículo científico publicado en 2013

TDP-43 accumulation is common in myopathies with rimmed vacuoles

scientific article published on 09 December 2008

The enteric nervous system and the musculature of the colon are altered in patients with spina bifida and spinal cord injury

artículo científico publicado en 2017

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

The immune reconstitution inflammatory syndrome: a cause of death in persons on antiretroviral therapy?

artículo científico publicado en 2013

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

article

The linear naevus sebaceus syndrome

artículo científico publicado en 1998

The neuropathology of hereditary congenital facial palsy vs Möbius syndrome

artículo científico publicado en 2005

The phenotype of the Gly94fsX222 PMP22 insertion

Thickening of dura surrounding meningiomas: MR features

artículo científico publicado en 1989

Thyroid surgery with a harmonic scalpel: an experimental study.

artículo científico publicado en 2016

Ultrasound-guided approach to nerves (direct vs. tangential) and the incidence of intraneural injection: a cadaveric study

artículo científico publicado en 2017

Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox

artículo científico publicado en 2010

Ventilation-induced massive lethal air embolism and subcutaneous emphysema in a patient with a lung cavern.

artículo científico publicado en 2014

What can we learn from assisted bicycle training in a girl with dystrophinopathy? A case study.

artículo científico publicado en 2014

[Metabolic myopathies - an overview]

artículo científico publicado en 2009

Lista de obras de Martin Lammens

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

A case of neuromuscular mimicry

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

A new phenotype of autosomal dominant nemaline myopathy

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

Accuracy of Lipoarabinomannan and Xpert MTB/RIF Testing in Cerebrospinal Fluid To Diagnose Tuberculous Meningitis in an Autopsy Cohort of HIV-Infected Adults

Acute disseminated encephalomyelitis associated with Borrelia burgdorferi

An Uncommon Presentation of Brain Metastases in a Lung Cancer Patient.

Arachnoidal cyst arising from the oculomotor cistern

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Bilateral intraneural perineurioma presenting as ulnar neuropathy at the elbow

Brain defects in infants with Potter syndrome (oligohydramnios sequence)

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Carbogen breathing differentially enhances blood plasma volume and 5-fluorouracil uptake in two murine colon tumor models with a distinct vascular structure

Cardiac biplane strain imaging: initial in vivo experience.

Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas revealed by comparative genomic hybridization.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

Colloid cysts of the third ventricle: MR findings.

Comments on Coggeshall et al., PAIN, 52 (1992) 233-242

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Congenital monomelic muscular hypertrophy of the upper extremity

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Delayed intrauterine repair of an experimental spina bifida with a collagen biomatrix

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

Dendritic cell vaccination as postremission treatment to prevent or delay relapse in acute myeloid leukemia

Desmoid tumors display a strong immune infiltration at the tumor margins and no PD-L1-driven immune suppression

Development and developmental disorders of the human cerebellum ⬇️

Development of the human cerebellum and its disorders

Differences in the Mitochondrial and Lipid Droplet Morphology in Female Office Workers With Trapezius Myalgia, Compared With Healthy Controls: A Muscle Biopsy Study

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

Drop metastasis from pituitary adenoma. Case illustration

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Extradural epidermoid tumor of the frontal bone

Fetal akinesia sequence caused by nemaline myopathy

Further evidence for myelinated as well as unmyelinated fibre damage in a rat model of neuropathic pain

Hemorrhagic colloid cyst: case report and review of the literature

Heparan sulfate expression patterns in the amyloid deposits of patients with Alzheimer's and Lewy body type dementia

Histological evaluation of acute covering of an experimental neural tube defect with biomatrices in fetal sheep

Hypothermia in three patients with multiple sclerosis

IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes.

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

In utero repair of an experimental neural tube defect in a chronic sheep model using biomatrices.

Increased axonal ribosome numbers in CMT diseases

Increased axonal ribosome numbers is an early event in the pathogenesis of amyotrophic lateral sclerosis

Intestinal involvement in amyloidosis is a sequential process

Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

Late-onset post-irradiation vasculopathy of the posterior cerebral vasculature

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP

Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Monosomy X and omphalocele

Multiple phenotypes in phosphoglucomutase 1 deficiency

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Mutations in TPM2 and congenital fibre type disproportion

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

NADPH-diaphorase-containing neurons in cortex, subcortical white matter and neostriatum are selectively spared in Alzheimer's disease

Neuroinflammation and Not Tauopathy Is a Predominant Pathological Signature of Nodding Syndrome

Neuroinflammation and structural injury of the fetal ovine brain following intra-amniotic Candida albicans exposure.