Charcot-Marie-Tooth Disease Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA s... (Source: BMC Neurology)
Source: BMC Neurology - June 30, 2023 Category: Neurology Authors: Haofeng Chen, Chong Sun, Yongsheng Zheng, Junxiong Yin, Mingshi Gao, Chongbo Zhao and Jie Lin Tags: Case Report Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
Thoracic synovial cyst as cause of cord compression in a patient with Charcot-Marie-Tooth disease
Acta Biomed. 2023 Jun 23;94(S2):e2023051. doi: 10.23750/abm.v94iS2.12521.ABSTRACTAn 80-year-old male patient affected by Charcot-Marie-Tooth (CMT) disease came to our attention in July 2020, for the occurrence of low back pain and lower limb weakness, and also saddle anesthesia, urinary and faecal retention were referred. His diagnosis of CMT is dated back to 1955 and through the years, the clinical picture slowly worsened but never got particularly severe. The quick symptoms outbreak and the presence of urinary disturbances were red flags, which lead us to direct the diagnostic orientation elsewhere. A Magnetic Resonance ...
Source: Acta Bio-Medica : Atenei Parmensis - June 27, 2023 Category: General Medicine Authors: Domenico De Mauro Alessandra Cicia Maria Concetta Meluzio Giovanni Grillo Amarildo Smakaj Andrea Perna Francesco Ciro Tamburrelli Source Type: research
Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A
CONCLUSIONS: Peripheral nerve stiffness dramatically increases in CMT1A and is correlated with the severity of nerve involvement.PMID:37369047 | DOI:10.11152/mu-3938 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - June 27, 2023 Category: Radiology Authors: Diandian Huang Lingchao Meng Liu Jiang Zhaoxia Wang Luzeng Chen Yun Yuan Source Type: research
