E-LIB Suche - Ergebnisse für: Sobreira, Claudia

1

Leigh Syndrome Due to mtDNA Pathogenic Variants:

Pereira, Cristina ; Souza, Carolina Fischinger de ; Vedolin, Leonardo...
Journal of Inborn Errors of Metabolism and Screening. 7 (2019) - p. , 2019

Link: https://doi.org/10.1590/..

2

Allogeneic haematopoietic stem cell transplantation for mit..:

Halter, Joerg P. ; Michael, W. ; Schüpbach, M....
Brain. 138 (2015) 10 - p. 2847-2858 , 2015

Link: https://doi.org/10.1093/..

3

Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:

Lourenco, Charles ; Sobreira, Claudia ; Giugliani, Roberto..
Neurology. 82 (2014) 10_supplement - p. , 2014

Link: https://doi.org/10.1212/..

4

Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:

Lourenco, Charles ; Sobreira, Claudia ; Giugliani, Roberto..
Neurology. 82 (2014) 10_supplement - p. , 2014

Link: https://doi.org/10.1212/..

5

Cerebellar Ataxia with Hypogonadism: Delineating a New Grou..:

Lourenco, Charles ; Sobreira, Claudia ; Zuchner, Stephan.
Neurology. 80 (2013) 7_supplement - p. , 2013

Link: https://doi.org/10.1212/..

6

Unraveling the Leukodystrophies: Clinical, Biochemical and ..:

Lourenco, Charles ; Simao, Gustavo ; Sobreira, Claudia...
Molecular Genetics and Metabolism. 105 (2012) 2 - p. S45 , 2012

Link: https://doi.org/10.1016/..

7

Esophageal Contractions in Patients with Chronic Progressiv..:

Domenis, Danielle Ramos ; Okubo, Paula Macedo Carvalho Issa ; Sobreira, Cláudia.
Digestive Diseases and Sciences. 56 (2011) 8 - p. 2343-2348 , 2011

Link: https://doi.org/10.1007/..

8

Leigh-like syndrome with the T8993G mutation in the mitocho..:

Sobreira, Cláudia ; Marques Jr., Wilson ; Pontes Neto, Octávio M....
Journal of the Neurological Sciences. 278 (2009) 1-2 - p. 132-134 , 2009

Link: https://doi.org/10.1016/..

9

Compound Charcot-Marie-Tooth disease may determine unusual ..:

Gouvea, Silmara P. ; S. Borghetti, Vinícius H. ; Bueno, Keity C....
neurogenetics. 11 (2009) 1 - p. 135-138 , 2009

Link: https://doi.org/10.1007/..

10

Pompe disease in a Brazilian series: clinical and molecular..:

Oba-Shinjo, Sueli M. ; da Silva, Roseli ; Andrade, Fernanda G....
Journal of Neurology. 256 (2009) 11 - p. 1881-1890 , 2009

Link: https://doi.org/10.1007/..

11

Hand weakness in Duchenne muscular dystrophy and its relati..:

Mattar, Fabiana Luisa ; Sobreira, Claudia
Neuromuscular Disorders. 18 (2008) 3 - p. 193-198 , 2008

Link: https://doi.org/10.1016/..

12

Correlations of Egen Klassifikation and Barthel Index score..:

Brunherotti, Marisa Afonso ; Sobreira, Claudia ; Rodrigues-Júnior, Antônio Luiz...
Heart & Lung. 36 (2007) 2 - p. 132-139 , 2007

Link: https://doi.org/10.1016/..

13

Expanding the phenotypes of the Pro56SerVAPBmutation: Proxi..:

Marques, Vanessa D. ; Barreira, Amilton A. ; Davis, Mary B....
Muscle & Nerve. 34 (2006) 6 - p. 731-739 , 2006

Link: https://doi.org/10.1002/..

14

Long-Term Analysis of Differentiation in Human Myoblasts Re..:

Sobreira, Cláudia ; King, Michael P. ; Davidson, Mercy M....
Biochemical and Biophysical Research Communications. 266 (1999) 1 - p. 179-186 , 1999

Link: https://doi.org/10.1006/..

15

Best practice guidelines on genetic diagnostics of faciosca..:

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah...
Clinical Genetics. 106 (2024) 1 - p. 13-26 , 2024

Link: https://doi.org/10.1111/..