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    PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients

    DOI Logo 10.17352/jnnsd.000021

    Published On: September 15, 2017 | Pages: 051 - 052

    Author(s): Pita Rodríguez M*, Zaldívar Vaillant T, Zayas Guillot M, Alvarez González MA
    Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38–50 [1]. Previous reports describe genotype and frequency differences among ethnic groups [2,3]. In around 95% SMA results from the loss of SMN1 ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Magnetic Resonance Imaging versus Proton Magnetic Resonance Spectroscopy in Neonatal Hypoxic Ischemic Encephalopathy in Egyptian Population: Pilot study

    DOI Logo 10.17352/jnnsd.000020

    Published On: August 30, 2017 | Pages: 043 - 050

    Author(s): Ossama Y Mansour*, Doaa Hanfy, Sameh Fathy and Rania E Mohammed,
    Background: Hypoxic-ischemic encephalopathy (HIE) is a serious condition that results of critical failure of the intrapartum gas exchange and may lead to a signifi cant damage in the central nervous system. Objective: to elucidate the role of brain magnetic resonance imaging (MRI) versus Proton magnetic resonance spectroscopy (1H-MRS) in the diagnosis and evaluati ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    The Clinico-Radiological Spectrum of Dyke-Davidoff-Masson Syndrome in adults

    DOI Logo 10.17352/jnnsd.000019

    Published On: August 07, 2017 | Pages: 038 - 042

    Author(s): Zeynep Ozozen Ayas, Kıyasettin Asil and Ruhsen Ocal,
    Background: Dyke-Davidoff-Masson syndrome (DDMS) is characterized by cerebral hemiatrophy, epileptic seizures, contralateral hemiplegia/hemiparesis, and mental retardation. Aims: In this study, clinical and radiological investigations of seven patients who were diagnosed with DDMS as adults age were evaluated and discussed with the literature. ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Social cognition and prefrontal cognitive function in patients with epilepsy treated with eslicarbazepine acetate

    DOI Logo 10.17352/jnnsd.000018

    Published On: July 17, 2017 | Pages: 033 - 037

    Author(s): Laura Abraira*, Sanabria A, Ortega G, Quintana M, Santamarina E, Salas-Puig J and Toledo M
    Purpose: The purpose of this study was to evaluate the impact of treatment with eslicarbazepine acetate (ESL) on social cognition and prefrontal cognitive function in adults with partial onset seizures. ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome

    DOI Logo 10.17352/jnnsd.000017

    Published On: July 03, 2017 | Pages: 028 - 032

    Author(s): Gebril OH*, Cheong SS, Hardcastle AJ, Abdelraouf ER, Eid SR and Elsaied M
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    Metastic Mesothelioma to the Brain: A Potential Differential Diagnosic Challenge

    DOI Logo 10.17352/jnnsd.000016

    Published On: June 24, 2017 | Pages: 025 - 027

    Author(s): Dalwadi VD, Sheikhi LE, Braun KL, Quist KD and Prayson RA*
    Background: Malignant mesothelioma is a rare neoplasm arising from the mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis or pericardium that spreads mainly via direct invasion. While distant metastasis is possible, metastasis to the central nervous system (CNS) is rare. ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    A Case of Isolated Central Nervous System Vasculitis in an Elderly Patient

    DOI Logo 10.17352/jnnsd.000015

    Published On: June 01, 2017 | Pages: 023 - 024

    Author(s): Clara Bartolaminelli, Gian Paolo Anzola*, Matteo Filippini and Gianluca Boari
    A 83 year old Italian woman, with unremarkable family history, was admitted in 2013 to a Neurology Ward for lumbar pain and progressive motor impairment of right lower limb.The only remarkable event in her past history had been a clinical diagnosis of Rheumatoid Arthritis (RA) 20 years earlier, not confi rmed by laboratory tests and radiological imaging. The neurologi ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Comparing Staircase and Skilled Forelimb Reaching Tests After Endothelin-1-Induced Stroke

    DOI Logo 10.17352/jnnsd.000014

    Published On: May 05, 2017 | Pages: 016 - 022

    Author(s): Lindsey D Jager, Claire-Marie A Canda, Megan L Gilbertson, Crystal A Hall, Cassandra L Heilingoetter, Joann Huynh, Susanna S Kwok, Jin H Kwon, Jacob R Richie, Natanya S Russek and Matthew B Jensen*
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    Music Therapy in Patients with Huntington’s Disease: A Case Report

    DOI Logo 10.17352/jnnsd.000013

    Published On: March 23, 2017 | Pages: 012 - 015

    Author(s): Monique CH van Bruggen-Rufi*, Annemieke C Vink2, Wilco P Achterberg, Raymund AC Roos
    This paper reports about 2 patients with Huntington’s disease who benefi t greatly from music therapy while they are struggling with behavioral and emotional problems, due to the advanced stage of the disease. Huntington’s disease (HD) is an inherited neuropsychiatric disease with progressive neural degeneration of the basal ganglia and gradual atrophy of the front ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Treatment of Intracranial Superfi cial Micro-AVMs: A Single Center Experience

    DOI Logo 10.17352/jnnsd.000012

    Published On: February 23, 2017 | Pages: 007 - 011

    Author(s): GM Overdevest, AC van Es, MAA van Walderveen and PWA Willems*
    Background: Surgery and embolization may both be considered in ruptured superfi cial micro-AVMs. However, surgery may be challenged by poor recognition of the lesion and embolization by diffi culty in achieving complete obliteration and avoiding en passage feeders. Recent developments in AVM surgery and embolization techniques call for a reevaluation of these treat ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    The Potential Role of Store-Operated Calcium Entry (SOCE) Pathways in the Pathophysiology of Epilepsy and Migraine-Like Headaches in Patients with Neurocysticercosis

    DOI Logo 10.17352/jnnsd.000011

    Published On: January 25, 2017 | Pages: 001 - 006

    Author(s): Yannick Fogoum Fogang*
    Cysticercosis is the most common helminthic disease of the nervous system in humans. The clinical presentation of neurocysticercosis (NCC) is nonspecifi c and can mimic a wide array of primary central nervous system (CNS) disorders, making its diagnosis a challenge especially in endemic areas. The pathophysiology of episodic CNS manifestations of NCC is not ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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