E-LIB Suche - Ergebnisse für: Blumen, Sergiu C.

1

Disease-associated polyalanine expansion mutations impair U..:

Amer-Sarsour, Fatima ; Falik, Daniel ; Berdichevsky, Yevgeny...
The EMBO Journal. 43 (2024) 2 - p. 250-276 , 2024

Link: https://doi.org/10.1038/..

2

Oculopharyngeal muscular dystrophy mutations link the RNA‐b..:

Ishtayeh, Hasan ; Galves, Margarita ; Barnatan, Tania T....
Aging Cell. 22 (2023) 10 - p. , 2023

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

3

Featured Cover:

Ishtayeh, Hasan ; Galves, Margarita ; Barnatan, Tania T....
Aging Cell. 22 (2023) 10 - p. , 2023

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

4

Transillumination Assisted Cricopharyngeal Myotomy:

Avior, Galit ; Noy, Roee ; Blumen, Sergiu C...
Indian Journal of Otolaryngology and Head & Neck Surgery. 74 (2020) S2 - p. 2486-2492 , 2020

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

5

Large Intragenic Deletion in DSTYK Underlies Autosomal-Rece..:

Lee, John Y.W. ; Hsu, Chao-Kai ; Michael, Magdalene...
The American Journal of Human Genetics. 100 (2017) 2 - p. 364-370 , 2017

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

6

Homozygosity for a Recessive Loss-of-Function Mutation of t..:

Newman, Hadas ; Blumen, Sergiu C. ; Braverman, Itzhak...
Investigative Opthalmology & Visual Science. 57 (2016) 13 - p. 5361 , 2016

Link: https://doi.org/10.1167/..

7

Dynamic MRI testing of the cervical spine has prognostic si..:

Gotkine, Marc ; Abraham, Alon ; Drory, Vivian E....
Journal of the Neurological Sciences. 345 (2014) 1-2 - p. 168-171 , 2014

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

8

A rare recessive distal hereditary motor neuropathy with HS..:

Blumen, Sergiu C. ; Astord, Stéphanie ; Robin, Valérie...
Annals of Neurology. 71 (2012) 4 - p. 509-519 , 2012

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

9

Novel mutation inVCPgene causes atypical amyotrophic latera..:

González-Pérez, Paloma ; Cirulli, Elizabeth T. ; Drory, Vivian E....
Neurology. 79 (2012) 22 - p. 2201-2208 , 2012

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

10

Immortalized pathological human myoblasts: towards a univer..:

Mamchaoui, Kamel ; Trollet, Capucine ; Bigot, Anne...
Skeletal Muscle. 1 (2011) 1 - p. , 2011

Link: https://doi.org/10.1186/..

11

Apparent weakness of ulnar-innervated muscles in radial pal..:

Sadeh, Menachem ; Gilad, Ronit ; Dabby, Ron.
Neurology. 62 (2004) 8 - p. 1424-1425 , 2004

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

12

A locus for complicated hereditary spastic paraplegia maps ..:

Blumen, Sergiu C. ; Bevan, Simon ; Abu‐Mouch, Saif...
Annals of Neurology. 54 (2003) 6 - p. 796-803 , 2003

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

13

Homozygotes for oculopharyngeal muscular dystrophy have a s..:

Blumen, Sergiu C. ; Brais, Bernard ; Korczyn, Amos D....
Annals of Neurology. 46 (1999) 1 - p. 115-118 , 1999

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

14

The oculopharyngeal muscular dystrophy locus maps to the re..:

Brais, Bernard ; Xie, Ya-Gang ; Sanson, Marc...
Human Molecular Genetics. 4 (1995) 3 - p. 429-434 , 1995

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

15

Featured Cover:

Ishtayeh, Hasan ; Galves, Margarita ; Barnatan, Tania T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577572/. , 2023

Link: http://www.ncbi.nlm.nih...