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Neuropediatrics

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https://www.readbyqxmd.com/read/28641335/jumping-mechanography-as-a-complementary-testing-tool-for-motor-function-in-children-with-hereditary-motor-and-sensory-neuropathy
#1
Katharina Vill, Lena Ille, Astrid Blaschek, Rainer Rawer, Mirjam N Landgraf, Lucia Gerstl, Sebastian A Schroeder, Wolfgang Müller-Felber
No abstract text is available yet for this article.
June 22, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28628940/clinical-neurophysiology-in-neuromuscular-disorders-old-fashioned-or-still-relevant
#2
Wolfgang Müller-Felber, Katharina Vill
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28628939/expanding-phenotype-of-de-novo-mutations-in-gnao1-four-new-cases-and-review-of-literature
#3
David C Schorling, Tobias Dietel, Christina Evers, Katrin Hinderhofer, Rudolf Korinthenberg, Daniel Ezzo, Carsten G Bönnemann, Janbernd Kirschner
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28628938/outcome-after-robotic-assisted-thymectomy-in-children-and-adolescents-with-acetylcholine-receptor-antibody-positive-juvenile-myasthenia-gravis
#4
Adela Della Marina, Heike Kölbel, Maximilian Müllers, Olaf Kaiser, Mahmoud Ismail, Marc Swierzy, Jens-Carsten Rueckert, Ulrike Schara
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28628937/the-epilepsy-aphasia-spectrum-from-landau-kleffner-syndrome-to-rolandic-epilepsy
#5
Bigna Katrin Bölsterli Heinzle
No abstract text is available yet for this article.
June 19, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28599324/morning-glory-disc-anomaly-associated-with-ipsilateral-optic-nerve-and-chiasm-thickening-three-cases-and-review-of-the-literature
#6
Chiara Doneda, Lorenzo Pinelli, Matteo Scaramuzzi, Jessica Galli, Elisa Fazzi, Cecilia Parazzini, Andrea Righini, Paolo Nucci
No abstract text is available yet for this article.
June 9, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28599323/a-guideline-for-the-diagnosis-of-pediatric-mitochondrial-disease-the-value-of-muscle-and-skin-biopsies-in-the-genetics-era
#7
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, Holger Prokisch, Wolfgang Sperl
No abstract text is available yet for this article.
June 9, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28597455/hereditary-neuropathies-update-2017
#8
Sabine Rudnik-Schöneborn, Michaela Auer-Grumbach, Jan Senderek
No abstract text is available yet for this article.
June 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28582795/another-case-of-glucose-transporter-1-deficiency-syndrome-with-periventricular-calcification-cataracts-hemolysis-and-pseudohyperkalemia
#9
Takashi Shibata, Katsuhiro Kobayashi, Harumi Yoshinaga, Hiroaki Ono, Michiko Shinpo, Kuriko Kagitani-Shimono
No abstract text is available yet for this article.
June 5, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28582794/epileptiform-activity-in-electroencephalogram-of-normal-children
#10
Amira Hamed Darwish, Azza Kamal Alshahawy, Walid Ahmed El-Shehaby
No abstract text is available yet for this article.
June 5, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28582793/anemia-in-glucose-transporter-type-1-deficiency-syndrome-often-expected-rarely-encountered-and-with-a-fascinating-explanation
#11
Michèl A Willemsen
No abstract text is available yet for this article.
June 5, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28571101/gnaq-mutation-in-the-venous-vascular-malformation-and-underlying-brain-tissue-in-sturge-weber-syndrome
#12
Senthil K Sundaram, Sharon K Michelhaugh, Neil V Klinger, William J Kupsky, Sandeep Sood, Harry T Chugani, Sandeep Mittal, Csaba Juhász
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28571100/diagnosis-and-new-treatment-avenues-in-spinal-muscular-atrophy
#13
Astrid Pechmann, Janbernd Kirschner
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28571099/neurological-involvement-in-pediatric-hemolytic-uremic-syndrome-a-symptom-oriented-analysis
#14
Sevim Şahin, Elif Bahat Özdoğan, Gülay Kaya, Nezir Özgün, Ali Cansu, Mukaddes Kalyoncu, Embiya Dilber
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28571098/prenatal-brainstem-disruptions-small-lesions-big-problems
#15
Eugen Boltshauser, Florian Bauder, Miriam Giarrana, Anette Hackenberg, Sébastien Lebon, Eliane Roulet-Perez, Regula Schmid, Thomas Schmitt-Mechelke, Andrea Poretti
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28571097/pediatric-neuroradiology-clinical-practice-essentials
#16
Eugen Boltshauser
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28505671/megdel-syndrome-expanding-the-phenotype-and-new-mutations
#17
Sílvia Sequeira, Márcia Rodrigues, Sandra Jacinto, Ron A Wevers, Saskia B Wortmann
No abstract text is available yet for this article.
May 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28505670/the-increasing-genetic-and-phenotypical-diversity-of-congenital-myasthenic-syndromes
#18
Grace McMacken, Angela Abicht, Teresinha Evangelista, Sally Spendiff, Hanns Lochmüller
No abstract text is available yet for this article.
May 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#19
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28482373/the-genetic-approach-next-generation-sequencing-based-diagnosis-of-congenital-and-infantile-myopathies-muscle-dystrophies
#20
Wolfram Kress, Simone Rost, Konstantin Kolokotronis, Gerhard Meng, Natalie Pluta, Clemens Müller-Reible
No abstract text is available yet for this article.
May 8, 2017: Neuropediatrics
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