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Showing 1 to 20 of 30 for “"Charcot-Marie-Tooth"”.
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Common Pathophysiological Features of Charcot-Marie-Tooth Disease
Hereditary peripheral neuropathy, also known as Charcot-Marie-Tooth disease (CMT) and related disorders, are a group of genetic disorders causing length-dependant neuropathy, resulting in motor and/or sensory loss progressing from the lower extremities toward the spine. With a population prevalence …
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Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden
… motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the most common hereditary neuromuscular disorder. In most families the disorder follows an autosomal dominant or X-linked mode of inheritance. Autosomal recessive HMSN (AR-HMSN) is rare in Western Europe, …
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Progressive (dis)ability: the experience of living with Charcot-Marie-Tooth disease
… of the experiences of six women living with Charcot-Marie-Tooth (CMT), an inherited degenerative neurological condition with a range of debilitating symptoms. It is the first ever in-depth qualitative study into the lived experience of CMT, which is relatively common yet largely unknown. This …
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Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease (CMT) is the commonest inherited neuromuscular disorder, which affects the peripheral nervous system leading to nerve degeneration. CMT is categorised into two forms, ‘axonal’ and ‘demyelinating’, which reflects the main site of pathology as the axon or Schwann cells …
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Charcot-Marie-Tooth-Neuropathie Typ 2 : neue Myelinprotein-P0-Punktmutationen und Haplotypenanalyse in europäischen Familien
… of hereditary motor and sensory neuropathies of Charcot Marie Tooth type (CMT) are among the most common inherited diseases in humans. With respect to electroneurography and nerve pathology, CMT is subdivided in demyelinating CMT1 and axonal CMT2. Causative gene mutations can be identified in …
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Identifizierung und Charakterisierung des Gens für die autosomal rezessiv erbliche Charcot-Marie-Tooth-Neuropathie Typ 4C (CMT4C)
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth neuropathy (CMT) is the most common inherited neuromuscular disorder. In most of the families, HMSN is inherited as an autosomal dominant or X-linked trait. In Western Europe, autosomal recessive HMSN (AR-HMSN) is much less …
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Human dental pulp stem cells as a patient-in-a-dish model for Charcot-Marie-Tooth disease type 1A
De ziekte van Charcot-Marie-Tooth type 1A (CMT1A) is een veel voorkomende erfelijke neuropathie die wordt gekenmerkt door een abnormale myelinisatie van de perifere zenuwen en treft wereldwijd ongeveer 1 op 5000 personen. Veroorzaakt door de verdubbeling van het perifere myeline proteïne 22 (PMP22) …
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Die Rolle von Immunzellen bei der primär genetisch-vermittelten Demyelinisierung in einem Mausmodell für die Charcot-Marie-Tooth-Neuropathie, Typ 1X
Ziel der vorliegenden Arbeit war, zu untersuchen, ob Immunzellen den Schweregrad einer peripheren Neuropathie im Mausmodell von CMT1X (Cx32def (Cx32-defiziente) Maus) beeinflussen können. Mit Hilfe von immunhistochemischen Färbemethoden, lichtmikroskopischen, immunelektronenmikroskopischen und …
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Characterizing CMT-causing variants in tryptophanyl- tRNA synthetase
… cognate tRNAs. Neurological conditions, such as Charcot-Marie-Tooth (CMT) disease, have been linked to variants identified in these enzymes. I created a humanized yeast model to assess the underlying disease-causing mechanism associated with two CMT variants, H257R and D314G, present in the human …
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Essential Caretaking for Artists with Disabilities: Exploring the Overlooked Histories of Hazel Knapp and Grandma Moses
… divergent career outcomes. Knapp was born with Charcot-Marie-Tooth disease, a neurodegenerative disorder, and fell into obscurity due to a lack of support for her condition, but experienced a promising start to her career that included patronage by Gertrude Stein and inclusion in an exhibition …
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Genetics of hearing impairment and peripheral neuropathy in Mali
… of HI-causal variants is insignificant. Charcot-Marie-Tooth disease (CMT), is the most common inherited peripheral neuropathy (IPN) with a high clinical and genetic heterogeneity and over 100 genes are related to CMT, mostly in populations of Caucasian ancestry. Yet, despite being …
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease comprises a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. With an overall prevalence of 1 in 2500, CMT is the most common inherited neuromuscular disorder in man. This …
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NEW ADVANCES IN QUANTITATIVE RADIOLOGY:MRI IMAGING IN MYOPATHIES
… study of the split-hand syndrome (SHS) in Charcot-Marie-Tooth disease type X1 (CMTX1), combining clinical, neurophysiological, and radiological data. SHS, previously associated mainly with motor neuronopathies, was identified in over half of CMTX1 patients using standard criteria and …
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Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien
… and sensitive neuropathy (HMSN), also called Charcot-Marie-Tooth neuropathy, represents the most frequent inherited neuromuscular disorder. In most cases HMSN is of autosomal dominant or X-chromosomal trait. Yet, the autosomal recessive inherited form (AR-HMSN) is less frequent in Western …
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Axonal Translation and Links to Neuropathies
… this process is affected in axons expressing the Charcot-Marie-Tooth disease type 2B (CMT2B)-related Rab7a mutants, leading to abnormal mitochondrial biogenesis and activity and compromised axon survival. Finally, attenuated de novo protein synthesis is observed in axons expressing amyotrophic …
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IN VIVO AND IN VITRO EVALUATION OF THE COMBINATION OF RNA INTERFERING AND GENE THERAPY FOR TREATING MITOFUSIN2-RELATED DISEASES
… dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy. Here, we propose a novel therapeutic strategy tailored to the correction of the root genetic defect of CMT2A, based on the combination of RNA- interference …
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Untersuchungen zum Zusammenhang zwischen mitochondrialer Morphologie, Alterung und Apoptose in Saccharomyces cerevisiae
… mit einer Reihe von schweren Erkrankungen, wie Charcot-Marie-Tooth Neuropathie Typ 2A oder Dominanter Optischer Atrophie einher. Zudem spielen Mitochondrien und die mitochondriale Dynamik eine zentrale Rolle beim programmierten Zelltod (Apoptose). Die Fragmentierung der Mitochondrien ist dabei …
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Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
… sclerosis, Parkinson's disease and axonal Charcot-Marie-Tooth disease. In GAN such changes are often striking: peripheral nerve biopsies show enlarged axons with accumulations of neurofilaments; so called "giant axons." Interestingly, IFs also accumulate in other cell types in patients. …
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P0 specific T-cell repertoire in wild-type and P0 deficient mice
… behindernden peripheren Neuropathien wie der Charcot-Marie-Tooth- oder der Dejerine-Sotas-Erkrankung. Wir haben das Tiermodell der P0-Knock-Out-Mäuse verwendet, um im Vergleich zu den C57BL/6-Wildtyp-Tieren Selektionsmechanismen des P0-spezifischen T-Zell-Repertoires zu untersuchen. Dazu wurde …
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CROSS-DISEASE ANALYSIS OF MOLECULAR AND CELLULAR MECHANISMS IN KIF5A-ASSOCIATED NEURODEGENERATIVE DISORDERS
… spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth disease (CMT), while frameshifts in its tail are linked to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus (NEIMY). To date, the molecular bases underpinning such clinical heterogeneity have been only …
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