S. Blumen

P. Andersen, S. Blumen, R. Carasso, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

S. Blumen, R. Carasso, E. Reid, 2003, Annals of neurology.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

S. Blumen, J. Bouchard, B. Brais, 1999, Annals of neurology.

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

F. Muntoni, S. Blumen, A. Bigot, 2011, Skeletal Muscle.

Transillumination Assisted Cricopharyngeal Myotomy

S. Blumen, I. Braverman, Galit Avior, 2020, Indian Journal of Otolaryngology and Head & Neck Surgery.

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

J. Weissenbach, M. Sanson, S. Blumen, 1995 .

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

S. Blumen, B. Brais, V. Drory, 2013, The Israel Medical Association journal : IMAJ.

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.

S. Blumen, I. Braverman, M. Khayat, 2017, Genetic testing and molecular biomarkers.

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.

I. Perlman, S. Blumen, I. Braverman, 2016, Investigative ophthalmology & visual science.

Retina Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced SCone Syndrome

I. Perlman, S. Blumen, I. Braverman, 2016 .

Intravascular malignant lymphomatosis: a cause of subacute dementia.

N. Gadoth, S. Blumen, A. Korczyn, 1995, Dementia.

The pupil cycle time in Horner's syndrome.

S. Blumen, A. Korczyn, V. Feiler-Ofry, 1986, Journal of clinical neuro-ophthalmology.

Effect of neck flexion on somatosensory and motor evoked potentials in Hirayama disease

S. Blumen, V. Drory, M. Gotkine, 2013, Journal of the Neurological Sciences.

Does pupillary sparing oculomotor nerve palsy really spare the pupil?

S. Blumen, A. Korczyn, V. Feiler-Ofry, 1991, Journal of Clinical Neuro-Ophthalmology.

Camptocormia, axial dystonia, and parkinsonism: Phenotypic heterogeneity of a parkin mutation

S. Blumen, N. Hattori, R. Inzelberg, 2003, Neurology.

Lingual Seizures1

S. Blumen, A. Korczyn, M. Neufeld, 1988 .

Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease

S. Blumen, J. Bouchard, V. Drory, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Alien hand sign in Creutzfeldt-Jakob disease

S. Blumen, R. Inzelberg, P. Nisipeanu, 2000 .

Cyclosporine-induced optic neuropathy, ophthalmoplegia, and nystagmus in a patient with Crohn disease.

Z. Fireman, S. Blumen, S. Blumen, 1998, American journal of ophthalmology.

Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel

S. Blumen, N. Blumen, A. Korczyn, 1997, Neuromuscular Disorders.

Oculopharyngeal muscular dystrophy mutations link the RNA‐binding protein HNRNPQ to autophagosome biogenesis

Y. Berdichevsky, S. Blumen, I. Braverman, 2023, Aging cell.

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene

S. Blumen, J. Bouchard, B. Brais, 2000, Neurology.

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

S. Blumen, K. Mamchaoui, G. Dickson, 2017, Nature Communications.

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

S. Blumen, J. Bouchard, B. Brais, 1999, Annals of neurology.