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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed, Liena E O; Mohammed, Inaam N; Hamed, Ahlam A A; Elseed, Maha A; Johnson, Adam; Mairey, Mathilde; Mohamed, Hassab Elrasoul S A; Idris, Mohamed N; Salih, Mustafa A M; El-Sadig, Sarah M; Koko, Mahmoud E; Mohamed, Ashraf Y O; Raymond, Laure; Coutelier, Marie; Darios, Frédéric; Siddig, Rayan A; Ahmed, Ahmed K M A; Babai, Arwa M A; Malik, Hiba M O; Omer, Zulfa M B M; Mohamed, Eman O E; Eltahir, Hanan B; Magboul, Nasr Aldin A; Bushara, Elfatih E; Elnour, Abdelrahman; Rahim, Salah M Abdel; Alattaya, Abdelmoneim; Elbashir, Mustafa I; Ibrahim, Muntaser E; Durr, Alexandra; Audhya, Anjon; Brice, Alexis; Ahmed, Ammar E; Stevanin, Giovanni.
Afiliação
  • Elsayed LEO; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
  • Mohammed IN; Ecole Pratique des Hautes Etudes, EPHE, PSL université, Paris, France.
  • Hamed AAA; University of Khartoum, Khartoum, Sudan.
  • Elseed MA; University of Khartoum, Khartoum, Sudan.
  • Johnson A; University of Khartoum, Khartoum, Sudan.
  • Mairey M; University of Khartoum, Khartoum, Sudan.
  • Mohamed HESA; Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, USA.
  • Idris MN; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
  • Salih MAM; Ecole Pratique des Hautes Etudes, EPHE, PSL université, Paris, France.
  • El-Sadig SM; Alnelain Medical Center, Khartoum, Sudan.
  • Koko ME; Sudan Medical Council, Neurology, Sudan.
  • Mohamed AYO; University of Khartoum, Khartoum, Sudan.
  • Raymond L; Sudan Medical Council, Neurology, Sudan.
  • Coutelier M; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Darios F; University of Khartoum, Khartoum, Sudan.
  • Siddig RA; Department of Neurology, Soba University Hospital, Khartoum, Sudan.
  • Ahmed AKMA; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Babai AMA; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.
  • Malik HMO; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
  • Omer ZMBM; Ecole Pratique des Hautes Etudes, EPHE, PSL université, Paris, France.
  • Mohamed EOE; Department of genetics, APHP Pitié-Salpêtrière Hospital, Paris, France.
  • Eltahir HB; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
  • Magboul NAA; Ecole Pratique des Hautes Etudes, EPHE, PSL université, Paris, France.
  • Bushara EE; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
  • Elnour A; Neelain University, Khartoum, Sudan.
  • Rahim SMA; University of Khartoum, Khartoum, Sudan.
  • Alattaya A; University of Khartoum, Khartoum, Sudan.
  • Elbashir MI; University of Khartoum, Khartoum, Sudan.
  • Ibrahim ME; University of Khartoum, Khartoum, Sudan.
  • Durr A; University of Khartoum, Khartoum, Sudan.
  • Audhya A; Department of Biochemistry, El Imam EL Mahdi University, Kosti, Sudan.
  • Brice A; Department of Radiology, Alamal National Hospital, Khartoum, Sudan.
  • Ahmed AE; University of Khartoum, Khartoum, Sudan.
  • Stevanin G; Department of Radiology, Ribat University Hospital, Khartoum, Sudan.
Eur J Hum Genet ; 25(1): 100-110, 2016 01.
Article em En | MEDLINE | ID: mdl-27601211
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Fatores de Troca do Nucleotídeo Guanina / Proteínas de Choque Térmico Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Fatores de Troca do Nucleotídeo Guanina / Proteínas de Choque Térmico Idioma: En Ano de publicação: 2016 Tipo de documento: Article