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Straussberg, Rachel
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1

Neurologic complications of thiamine (B1) deficiency follow..:

Cohen Vig, Lital ; Straussberg, Rachel ; Ziv, Noa...
European Journal of Paediatric Neurology.  50 (2024)  - p. 74-80 , 2024
Link: https://doi.org/10.1016/..
 
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2

Infant Botulism, Israel, 2007–2021:

Goldberg, Bar ; Danino, Dana ; Levinsky, Yoel...
Emerging Infectious Diseases.  29 (2023)  2 - p. 235-241 , 2023
Link: https://doi.org/10.3201/..
 
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3

The phenotype of homozygous EMC10 variant: A new syndrome w..:

Haddad-Eid, Eliana ; Gur, Noa ; Eid, Sharbel..
European Journal of Paediatric Neurology.  37 (2022)  - p. 56-61 , 2022
Link: https://doi.org/10.1016/..
 
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4

Clinical improvement of a toddler with COVID-19 focal cereb..:

Avital, Dekel ; Peretz, Shlomi ; Perlow, Eliauh...
European Journal of Paediatric Neurology.  40 (2022)  - p. 40-43 , 2022
Link: https://doi.org/10.1016/..
 
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5

Rheumatic fever in a developed country – is it still releva..:

Tal, Rotem ; Hamad Saied, Mohamad ; Zidani, Razi...
Pediatric Rheumatology.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine.  23 (2021)  6 - p. 1158-1162 , 2021
Link: https://doi.org/10.1038/..
 
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7

Deletion in COL4A2 is associated with a three-generation va..:

Hausman-Kedem, Moran ; Ben-Sira, Liat ; Kidron, Debora...
European Journal of Human Genetics.  29 (2021)  11 - p. 1654-1662 , 2021
Link: https://doi.org/10.1038/..
 
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8

Association of pediatric idiopathic intracranial hypertensi..:

Muhlbauer Avni, Maya ; Yosha-Orpaz, Naama ; Konen, Osnat..
European Journal of Paediatric Neurology.  30 (2021)  - p. 162-169 , 2021
Link: https://doi.org/10.1016/..
 
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9

A New Mechanism in THRA Resistance: The First Disease-Assoc..:

Paisdzior, Sarah ; Knierim, Ellen ; Kleinau, Gunnar...
International Journal of Molecular Sciences.  22 (2021)  10 - p. 5338 , 2021
Link: https://doi.org/10.3390/..
 
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10

The murine ortholog of Kaufman oculocerebrofacial syndrome ..:

Ambrozkiewicz, Mateusz C. ; Borisova, Ekaterina ; Schwark, Manuela...
Molecular Psychiatry.  26 (2020)  6 - p. 1980-1995 , 2020
Link: https://doi.org/10.1038/..
 
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11

A new homozygous HERC1 gain-of-function variant in MDFPMR s..:

Schwarz, Jana Marie ; Pedrazza, Leonardo ; Stenzel, Werner...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 126-134 , 2020
Link: https://doi.org/10.1016/..
 
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12

Intronic ATTTC repeat expansions in STARD7 in familial adul..:

Corbett, Mark A. ; Kroes, Thessa ; Veneziano, Liana...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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13

DEGS1 variant causes neurological disorder:

Dolgin, Vadim ; Straussberg, Rachel ; Xu, Ruijuan...
European Journal of Human Genetics.  27 (2019)  11 - p. 1668-1676 , 2019
Link: https://doi.org/10.1038/..
 
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14

A de novo GABRA2 missense mutation in severe early-onset ep..:

Orenstein, Naama ; Goldberg-Stern, Hadassa ; Straussberg, Rachel...
European Journal of Paediatric Neurology.  22 (2018)  3 - p. 516-524 , 2018
Link: https://doi.org/10.1016/..
 
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15

De novo GRIN1 mutations: An emerging cause of severe early ..:

Zehavi, Yoav ; Mandel, Hanna ; Zehavi, Arie...
European Journal of Medical Genetics.  60 (2017)  6 - p. 317-320 , 2017
Link: https://doi.org/10.1016/..
 
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