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Spinal and bulbar muscular atrophy

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

... Table 2 clinical characteristics of the liver study group B. Data shown are the average 6 SD for spinal and bulbar muscular atrophy (SBMA) group B, SBMA carriers, and male and female controls. ...

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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

... and bulbar muscular atrophy (SBMA), also known as Kennedy disease (KD), is a disabling adult onset neuromus- cular disorder that affects men and is primarily characterized by slowly progressive ...

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Clinical Characteristics and Genotype Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Clinical Characteristics and Genotype Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

... Purpose: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neu- ron disease characterized by proximal muscle weakness, muscle atrophy, and fas- ...

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Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy

Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy

... and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen ...muscle atrophy and ...testicular atrophy and reduced fertility as a ...

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Schiffer, Niclas Wilhelm
  

(2008):


	Investigation of the mechanism of toxicity in newly established models of polyglutamine diseases.


Dissertation, LMU München: Fakultät für Chemie und Pharmazie

Schiffer, Niclas Wilhelm (2008): Investigation of the mechanism of toxicity in newly established models of polyglutamine diseases. Dissertation, LMU München: Fakultät für Chemie und Pharmazie

... Several neurodegenerative diseases, including Huntington’s disease (HD) and spinal and bulbar muscular atrophy (SBMA), are associated with aberrant folding and aggregation of ...

163

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

... Methods: We created a national register for SBMA in the United Kingdom and recruited 61 patients between 2005 and 2013. In our cross-sectional study, we assessed, by direct question- ing, impairment of activities of ...

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Pearls & Oy-sters: HyperCKemia with limb-girdle weaknessThink beyond myopathies

Pearls & Oy-sters: HyperCKemia with limb-girdle weaknessThink beyond myopathies

... al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous ...in spinal and bulbar muscular ...

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Special Considerations in the Respiratory Management of Spinal Muscular Atrophy

Special Considerations in the Respiratory Management of Spinal Muscular Atrophy

... The natural history of SMA pulmonary compromise parallels progressive respiratory failure. Individuals with SMA 1 or 2 develop inspiratory and expiratory respiratory muscle weakness. Individuals with SMA type 1 also ...

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Survival of Patients With Spinal Muscular Atrophy Type 1

Survival of Patients With Spinal Muscular Atrophy Type 1

... spiratory decompensation can be life- threatening in SMA1 patients. In NRA patients, there are also more dif fi cul- ties in clearing airways and in per- forming resuscitation maneuvers due to bulbar dysfunction. ...

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Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency

... preserved. Bulbar dysfunction emerged, characterized by tongue fasciculations and atrophy, incoordinated swallow, and recurrent aspiration pneumonia ( Fig ...

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Spinal Muscular Atrophy: Survival Pattern and Functional Status

Spinal Muscular Atrophy: Survival Pattern and Functional Status

... Methods. Patients with SMA were recruited from the neuromuscular clinic of the Duchess of Kent Children’s Hospital, which is a university-affiliated hospital, and the Families of SMA in Hong Kong. By September 2002, 102 ...

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Impaired kidney structure and function in spinal muscular atrophy

Impaired kidney structure and function in spinal muscular atrophy

... Spinal muscular atrophy (SMA), a devastating neuromuscular disease characterized by motor neuron degeneration and pro- gressive muscle atrophy, is a leading genetic cause of infantile death ...

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Nusinersen for Type 1 Spinal Muscular Atrophy: A Father’s Perspective

Nusinersen for Type 1 Spinal Muscular Atrophy: A Father’s Perspective

... We thought our younger son was healthy at birth, and we had high hopes for his future. His weak movements and excessive fussiness raised our concerns, leading to an unsuspected, devastating diagnosis of type 1 ...

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A Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)

A Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)

... 2. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB: Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002, 110: 301-07. 10.1002/ajmg.10425. 3. Prior TW, ...

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Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

... This study represents the first complete and realistic costing to date of the burden of SMA patients in Spain. The main added value of the study lies in the bottom-up approach to costing. In addition, the costs were ...

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Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

... the Muscular Dystrophy UK Centre grant; of the MRC Translational Research Centre to UCL and Newcastle, and of the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital ...

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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

... The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein. Molecular pathways that are disrupted downstream of SMN therefore ...

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A qualitative study of perceptions of meaningful change in spinal muscular atrophy

A qualitative study of perceptions of meaningful change in spinal muscular atrophy

... Results: For the participants, meaningful change was relative to functional ability, and small changes in motor function could have an important impact on quality of life.. Because patie[r] ...

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Aberrant microRNA Expression in Spinal Muscular Atrophy Motor Neurons

Aberrant microRNA Expression in Spinal Muscular Atrophy Motor Neurons

... in spinal motor axons, and that both interact with cpg15 mRNA in ...ventral spinal cord and can promote motor axon branching and neuromuscular synapse formation, sug- gesting a crucial role in the ...

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A continuous repetitive task to detect fatigability in spinal muscular atrophy

A continuous repetitive task to detect fatigability in spinal muscular atrophy

... girdle muscular dystrophy; LMM: Linear mixed model; MFM: Motor function measure; NMJ: Neuromuscular junction; PMA: Progressive muscular atrophy; r9HPT: Repeated Nine-Hole Peg Test; SMA: Spinal ...

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