about
Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitorDeficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesHemorrhagic colloid cyst: case report and review of the literaturePolyneuropathy in lithium intoxicationAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationPostnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome.Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathologyNeuronal migration disorders in man.Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.A case of neuromuscular mimicry.Neuromuscular involvement in various types of Ehlers-Danlos syndrome.Multiple phenotypes in phosphoglucomutase 1 deficiency.Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type laminsCongenital myopathy caused by a novel missense mutation in the CFL2 gene.Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Neuroinflammation and structural injury of the fetal ovine brain following intra-amniotic Candida albicans exposure.Pure autonomic failure: a new case with clinical, biochemical, and necropsy data.Primary temporal bone secretory meningioma presenting as chronic otitis media.Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Symptomatic lipid storage in carriers for the PNPLA2 gene.Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyIncreased axonal ribosome numbers is an early event in the pathogenesis of amyotrophic lateral sclerosis.Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Development of the human cerebellum and its disorders.The enteric nervous system and the musculature of the colon are altered in patients with spina bifida and spinal cord injury.Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies.Carbogen breathing differentially enhances blood plasma volume and 5-fluorouracil uptake in two murine colon tumor models with a distinct vascular structurePrognosis and treatment of FOLFOX therapy related interstitial pneumonia: a plea for multimodal immune modulating therapy in the respiratory insufficient patientThe immune reconstitution inflammatory syndrome: a cause of death in persons on antiretroviral therapy?RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Nucleoplasmic LAP2alpha-lamin A complexes are required to maintain a proliferative state in human fibroblasts.Thyroid surgery with a harmonic scalpel: an experimental study.Cardiac biplane strain imaging: initial in vivo experience.Dendritic cell vaccination as postremission treatment to prevent or delay relapse in acute myeloid leukemia.Pathogenesis of axonal dystrophy and demyelination in alphaA-crystallin-expressing transgenic mice.A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Martin Lammens
@ast
Martin Lammens
@en
Martin Lammens
@es
Martin Lammens
@fr
Martin Lammens
@nl
Martin Lammens
@sl
type
label
Martin Lammens
@ast
Martin Lammens
@en
Martin Lammens
@es
Martin Lammens
@fr
Martin Lammens
@nl
Martin Lammens
@sl
prefLabel
Martin Lammens
@ast
Martin Lammens
@en
Martin Lammens
@es
Martin Lammens
@fr
Martin Lammens
@nl
Martin Lammens
@sl
P108
P1053
H-1503-2011
P106
P21
P31
P3829
P496
0000-0002-3881-6692