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Basel-Vanagaite L1, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM.
Human genetics.Hum Genet.2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mu
PMID 25792360

A heart breaking case of rapidly developing severe hemophagocytic syndrome secondary to chronic active EBV infection; a case report and review of the literature.

Tawfik K1, Liron Y2, Ayman AR3, Schneider R4, Wolf DG5, Ronen L6.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.J Clin Virol.2015 Jun;67:14-6. doi: 10.1016/j.jcv.2015.03.017. Epub 2015 Mar 24.
Epstein-Barr virus (EBV, HHV-4) is a gamma Herpesvirus with a 90% >seroprevalence in adults. Reactivations in non-immuno compromised individuals usually cause mild or no symptoms at all. Rarely, host immunity-virus balance is interrupted, resulting in a chronic active EBV infection. The following
PMID 25959150

Spinal cord grey matter abnormalities are associated with secondary progression and physical disability in multiple sclerosis.

Kearney H1, Schneider T1, Yiannakas MC1, Altmann DR2, Wheeler-Kingshott CA3, Ciccarelli O3, Miller DH3.
Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2015 Jun;86(6):608-14. doi: 10.1136/jnnp-2014-308241. Epub 2014 Aug 5.
BACKGROUND: In multiple sclerosis (MS), pathological studies have identified substantial demyelination and neuronal loss in the spinal cord grey matter (GM). However, there has been limited in vivo investigation of cord GM abnormalities and their possible functional effects using MRI combined with c
PMID 25097217

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Intractable & Rare Diseases Research 3(4), 100-100, 2014
… Fragile X syndrome (FXS) results from the loss or deficiency of FMRP and it is the most common cause of inherited intellectual disability and autism or autism spectrum disorder (ASD). …
NAID 130005008095

Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases

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Intractable & Rare Diseases Research 3(4), 162-165, 2014
… A debilitating late-onset disorder of the premutation in the FMR1 gene is the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS). …
NAID 130005008093

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Intractable & Rare Diseases Research 3(4), 166-177, 2014
… In light of this emerging literature and our clinical experience with toddlers and children with Fragile X syndrome (FXS), a randomized clinical trial pilot study was conducted of whether an interactive iPad®based parent training program was efficacious for both individuals with FXS and autism spectrum disorder aged 2-to-12 compared to wait-listed controls. …
NAID 130005008090