Cerebral Palsy and Neurodisability
Cognitive profile in children with bilateral spastic cerebral palsy due to periventricular leukomalacia | |
Kaeko Ogura, Yukihiro Kitai, Satori Hirai, Hiroshi Arai |
Upper Limb Habilitation in Children with Hemiplegic Cerebral Palsy Using A Novel Robotic Device – Assessment Using Jebsen-Taylor and Bruininks-Oseretsky Tests | |
Hian-Tat ONG, Hian-Tat ONG, Jia Xuan Tan, Michelle Lee, Jeremy LIN, Chee Leong Teo, Etienne Burdet, Sam Shuzhi Ge |
Genomic analysis identifies pathogenic variants in 9 of 17 cases with full-term cerebral palsy | |
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure |
CNS Infections
G-Therapy: A Hope For Patients With Subacute Sclerosing Panencephalitis! | |
Gunvant Devichand Oswal, Dr.Pooja Shrirang Upasani, Dr. Umesh D. Kalane, Dr.Nandan Yardi, Dr. Anaita Udwadia Hegde |
High burden of neurological presentations in children admitted to Kenyan hospitals: A multi-hospital cohort study. | |
Jane Hassell, Thomas Julius, Morris Ogero, Charles RJC Newton, Mike English, Sam Akech |
Education and Training
Worldwide short course education programmes in epilepsy for paediatricians – are they effective? | |
Alison Gifford, Jo Wilmshurst, Finbar O'Callaghan, Mike Griffiths, Colin Dunkley, Philippa Rodie, Helen Cross, Martin Kirkpatrick |
Development Cognition and Psychiatry
Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Gender and Genotype in Relation to Intellectual Phenotype | |
Petrus J De Vries, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood, Anna C Jansen |
Creating an assessment scale of social and behavioral development for preschool children -The process of creating the scale- | |
Hideyo Goma, Shun Tanaka, Michio Ushiyama, Tomomi Ikeda, Rika Ochiai, Toshihiro Kato, Satomi Shimizu, Kazuhisa Inoue, Reiko Ushio, Hiromi Kotani |
Epilepsy
Classifying Electroencephalographic Diagnoses of Epilepsy without Epileptiform Discharges and Nonepileptic Paroxysmal Events Using Deep Convolutional Neural Networks | |
Lung-Chang Lin, Chen-Sen Ouyang, Ching-Tai Chiang, Rong-Ching Wu, Hui-Chuan Wu, Rei-Cheng Yang |
Tuberous Sclerosis Complex (TSC) - Associated Epilepsy: Final Results from the TOSCA Study | |
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, Petrus J De Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen, John C Kingswood |
Yield of Laboratory Testing in Pediatric Ketogenic Diet Patients: Critical Assessment of Abnormal Results and Impact on Clinical Care. | |
Charuta Joshi, Chelsey Stillman, Stephanie Criteser, Alison Conley, Jennifer Oliver |
Asymptomatic malaria parasitaemia and seizure control in children with nodding syndrome; a cross sectional study | |
Rodney Ogwang, Ronald Anguzu, Pamela Akun, Albert Ningwa, Edward Kayongo, Kevin Marsh, Charles Newton, Richard Idro |
Headache
Examination of children with migraine; Three years experience | |
Deniz Karakaya, Deniz Yüksel, Hülya Kayılıoglu, Ayşe Aksoy, Ulkuhan Oztoprak, Çigdem Genç Sel, Erhan Aksoy, Ozge Dedeoglu |
Metabolic Disorders
Gene therapy improves global development in AADC deficiency | |
Takanori Yamagata, Karin Kojima, Akihiko Miyauchi, Takeshi Nakajima, Naoyuki Taga, Sachie Nakamura, Mitsuhiro Kato, Hitoshi Osaka, Shin-ichi Muramatsu |
Gelastic cataplexy leading to the diagnosis of Niemann-Pick disease type C | |
Ezgi Oktener Anuk |
Muscle and Nerve
Incidence of infantile spinal muscular atrophy in Shikoku Island of Japan | |
Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Risako Urate, Satoshi Maniwa, Daisuke Usui, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Takatoshi Hosokawa, Yukihiko Konishi, Reiko Arakawa, Kenji Mori, Eiichi Ishii, Kayoko Saito, Hisahide Nishio |
Childhood Onset Limb Girdle Muscular Dystrophies in Aegean Part of Turkey | |
Uluç Yiş, Gülden Diniz, Filiz Hazan, hülya sevcan daimagüler, bahar toklu baysal, figen baydan, gülçin akıncı, aycan ünalp, gül aktan, erhan bayram, semra hız, cem paketçi, derya okur, erdener özer, ayça ersen danyeli, gökhan uyanık, sebahattin çırak |
Combination of Topiramate and Lacosamide is Effective for Paramyotonia Congenita with neurological symptoms | |
Yoshie Kurokawa, Akihiko Miyauchi, Akihiko Miyauchi, Hirokazu Yamagishi, Hirokazu Yamagishi, Eriko Jimbo, Eriko Jimbo, Kazuhiro Muramatsu, Kazuhiro Muramatsu, Hitoshi Osaka, Hitoshi Osaka, Takanori Yamagata, Takanori Yamagata |
Design of a phase 3 trial to evaluate the long-term efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophy | |
Francesco Bibbiani, Panayiota Trifillis, Edward O'Mara, Joseph McIntosh |
Late onset LAMA-2 Deficiency Congenital Muscular Dystrophy | |
Amarinder Singh Oberoi, Krishnakumar N Shah |
Explore evaluation methods of treatment efficacy on spinal muscular atrophy | |
kotaro yuge, Masao Suda, Ryuta Ishii, Takashi Ohya, Shinichiro Nagamitsu, Motomu Yoshida, Yushiro Yamashita |
Neurogenetics
Two Siblings with Congenital Myotonia carrying a New Mutation in the CLCN 1 Gene | |
Nezir Özgün |
Two distinct phenotypes caused by the same mutation in the SAMHD1 gene | |
Serdal Gungor, Derya Okur, Elmasnur Yilmaz, Ana Topf, Rita Horvath, Hanns Lochmuller, Bilge Ozgor, Ece Sonmezler, Uluc Yis, Ahmet Yaramis, Yavuz Oktay, Semra Hiz |
CONSEQUITUR: A multinational effort towards determining the neurogenetic disease burden of consanguineous marriages in Turkey by genomics approaches | |
Semra Ayse Hiz, Elmasnur Yilmaz, Derya Okur, Ece Sonmezler, İpek Kalafatcilar, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Erhan Bayram, Ana Topf, Rita Horvath, Hanns Lochmuller, Yavuz Oktay |
Clinical and Imaging Characteristics of Subependymal Giant Cell Astrocytoma in Patients with Tuberous Sclerosis Complex included in TOSCA – TuberOus SClerosis Registry to IncreAse Disease Awareness | |
Anna C Jansen, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, Petrus J De Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood |
Burden of Illness and Quality of Life among Patients with Tuberous Sclerosis Complex: Findings from TOSCA Research Project | |
Anna C Jansen, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume B d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood |
Assessment of cardiac involvement in childhood Neurofibromatosis Type 1 diagnoses, identification of Rasopathic cases | |
Ilyas Emre Tekdemir, Deniz Yüksel, Vehbi Dogan, Ayşe Aksoy, Hulya Kayılıoglu, Ulkuhan Oztoprak, Erhan Aksoy, Cigdem Sel |
Hereditary spastic paraplefgia (HSP) in Brazilian children: a clinical and genetic study. | |
Roberta Magalhães Ortega, Marcondes Cavalcante França Jr., Sergio Rosemberg |
Neurocritical care, Neurotrauma, Neuroprotection
Assessment of clinical follow-up and prognosis in acute neurological condition in pediatric patients managed in pediatric intensive care unit | |
Ece Naz Karakaya, Deniz Yüksel, Selman Kesici, Ayşe Aksoy, Ülkühan Öztoprak, Çigdem Genç Sel, Erhan Aksoy, Hülya Kayılıoğlu |
Neuroradiology
Vacuolar leukodystrophy revealing COX10 mutation | |
Thouraya Ben Younes, Hanene Benrhouma, Rania Ben Aoun, Lilia Kraoua, Said Galai, Hedia Klaa, Aida Rouissi, Ridha Mrad, Cyrine Drissi, Souhail Omar, Abdelhamid Slama, Ichraf Kraoua, Ilhem Ben Youssef-Turki |
Neurooncology
A randomized, double-blind, parallel group, placebo-controlled trial of metformin in tuberous sclerosis complex | |
Sam Amin, Andrew A Mallick, Hannah Edwards, Andrew Lux, Amjad Khan, Matthew Laugharne, Marcus Likeman, Finbar O'Callaghan |
Stroke & Neurovascular Disorders
Brain Magnetic Resonance imaging and angiography findings in Ugandan children with Sickle Cell Anemia; a cross sectional study | |
Richard Idro, Nancy Green, Deogratius Munube, Linda Buluma, Bridget Kebirungi, Robert Opoka, Paul Bangirana, Ezekiel Mupere, Edward Kayongo, Rogers Sekibira, Phillip Kasirye, Iga Matovu, Samson Kamya Lubowa, Michael Kawooya, Philip Larussa, Frank Minja |
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