PABPN1 gene therapy for oculopharyngeal muscular dystrophy
Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. Polay, Mamchaoui, K., Blumen, S. C., St Guily, J. Lacau, Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G.
Published in Nature communications (31.03.2017)
Published in Nature communications (31.03.2017)
Get full text
Journal Article
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
Blumen, S C, Bouchard, J-P, Brais, B, Carasso, R L, Paleacu, D, Drory, V E, Chantal, S, Blumen, N, Braverman, I
Published in Neurology (25.08.2009)
Published in Neurology (25.08.2009)
Get more information
Journal Article
Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation
Inzelberg, R, Hattori, N, Nisipeanu, P, Abo Mouch, S, Blumen, S C, Carasso, R L, Mizuno, Y
Published in Neurology (22.04.2003)
Published in Neurology (22.04.2003)
Get more information
Journal Article
Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene
Blumen, S C, Korczyn, A D, Lavoie, H, Medynski, S, Chapman, J, Asherov, A, Nisipeanu, P, Inzelberg, R, Carasso, R L, Bouchard, J P, Tomé, F M, Rouleau, G A, Brais, B
Published in Neurology (14.11.2000)
Published in Neurology (14.11.2000)
Get more information
Journal Article
Parkin gene causing benign autosomal recessive juvenile parkinsonism
Nisipeanu, P, Inzelberg, R, Abo Mouch, S, Carasso, R L, Blumen, S C, Zhang, J, Matsumine, H, Hattori, N, Mizuno, Y
Published in Neurology (12.06.2001)
Published in Neurology (12.06.2001)
Get more information
Journal Article
Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene
Nisipeanu, P, Inzelberg, R, Blumen, S C, Carasso, R L, Hattori, N, Matsumine, H, Mizuno, Y
Published in Neurology (22.10.1999)
Published in Neurology (22.10.1999)
Get more information
Journal Article
Effect of neck flexion on somatosensory and motor evoked potentials in Hirayama disease
Abraham, A, Gotkine, M, Drory, V.E, Blumen, S.C
Published in Journal of the neurological sciences (15.11.2013)
Published in Journal of the neurological sciences (15.11.2013)
Get full text
Journal Article
Transient unilateral mydriasis as the presenting sign of aortic and carotid dissection
Inzelberg, R, Nisipeanu, P, Blumen, S C, Kovach, I, Groisman, G M, Carasso, R L
Published in Neurology (26.12.2000)
Published in Neurology (26.12.2000)
Get more information
Journal Article
Alien hand sign in Creutzfeldt-Jakob disease
INZELBERG, R, NISIPEANU, P, BLUMEN, S C, CARASSO, R L
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2000)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2000)
Get full text
Journal Article
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews
Blumen, S C, Sadeh, M, Korczyn, A D, Rouche, A, Nisipeanu, P, Asherov, A, Tomé, F M
Published in Neurology (01.05.1996)
Published in Neurology (01.05.1996)
Get more information
Journal Article
Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel
Blumen, S.C., Nisipeanu, P., Sadeh, M., Asherov, A., Blumen, N., Wirguin, Y., Khilkevich, O., Carasso, R.L., Korczyn, A.D.
Published in Neuromuscular disorders : NMD (01.10.1997)
Published in Neuromuscular disorders : NMD (01.10.1997)
Get full text
Journal Article
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
Blumen, Sergiu C., Brais, Bernard, Korczyn, Amos D., Medinsky, Susan, Chapman, Joab, Asherov, Alexander, Nisipeanu, Puiu, Codère, François, Bouchard, Jean-Pierre, Fardeau, Michel, Tomé, Fernando M. S., Rouleau, Guy A.
Published in Annals of neurology (01.07.1999)
Published in Annals of neurology (01.07.1999)
Get full text
Journal Article
‘Hyperacute’ Guillain-Barré Syndrome
Steiner, I., Wirguin, I., Blumen, S.C., Dano, M., Raphaeli, G., Schwartz, I., Korn-Lubetzki, I.
Published in European neurology (01.01.2008)
Published in European neurology (01.01.2008)
Get full text
Journal Article
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
Brais, B, Xie, Y G, Sanson, M, Morgan, K, Weissenbach, J, Korczyn, A D, Blumen, S C, Fardeau, M, Tomé, F M, Bouchard, J P
Published in Human molecular genetics (01.03.1995)
Published in Human molecular genetics (01.03.1995)
Get more information
Journal Article
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews
Blumen, S.C., Nisipeanu, P., Sadeh, M., Asherov, A., Tomé, F.M.S., Korczyn, A.D.
Published in Neuromuscular disorders : NMD (01.01.1993)
Published in Neuromuscular disorders : NMD (01.01.1993)
Get full text
Journal Article
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
González-Pérez, Paloma, Cirulli, Elizabeth T, Drory, Vivian E, Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L, Sadeh, Menachem, Fox, Andrew, Festoff, Barry W, Sapp, Peter C, McKenna-Yasek, Diane, Goldstein, David B, Brown, Jr, Robert H, Blumen, Sergiu C
Published in Neurology (27.11.2012)
Published in Neurology (27.11.2012)
Get more information
Journal Article
Lingual seizures
Neufeld, M Y, Blumen, S C, Nisipeanu, P, Korczyn, A D
Published in Epilepsia (Copenhagen) (01.01.1988)
Published in Epilepsia (Copenhagen) (01.01.1988)
Get more information
Journal Article
Does pupillary sparing oculomotor nerve palsy really spare the pupil ?
BLUMEN, S. C, FEILER-OFRY, V, KORCZYN, A. D
Published in Journal of clinical neuro-ophthalmology (01.06.1991)
Get full text
Published in Journal of clinical neuro-ophthalmology (01.06.1991)
Journal Article
The pupil cycle time in Horner's syndrome
BLUMEN, S. C, FEILER-OFRY, V, KORCZYN, A. D
Published in Journal of clinical neuro-ophthalmology (01.12.1986)
Get full text
Published in Journal of clinical neuro-ophthalmology (01.12.1986)
Journal Article
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
Blumen, Sergiu C., Bevan, Simon, Abu-Mouch, Saif, Negus, David, Kahana, Michael, Inzelberg, Rifka, Mazarib, Aziz, Mahamid, Ahmad, Carasso, Ralph L., Slor, Hanoch, Withers, David, Nisipeanu, Puiu, Navon, Ruth, Reid, Evan
Published in Annals of neurology (01.12.2003)
Published in Annals of neurology (01.12.2003)
Get full text
Journal Article