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No To Hattatsu, ISSN 0029-0831, 11/2015, Volume 47, Issue 6, pp. 439 - 444
Journal Article
No to hattatsu = Brain and development, ISSN 0029-0831, 11/2015, Volume 47, Issue 6, p. 439
The present study aimed to evaluate the efficacy of surgical treatment for intractable aspiration in patients with severe motor and intellectual disabilities... 
Young Adult | Aspirations (Psychology) | Humans | Adolescent | Child, Preschool | Brain Diseases | Infant | Tracheostomy | Child | Trachea - surgery
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2015, Volume 52, Issue 5, pp. 526 - 528
Journal Article
by Chong, Pin Fee and Kira, Ryutaro and Mori, Harushi and Okumura, Akihisa and Torisu, Hiroyuki and Yasumoto, Sawa and Shimizu, Hiroyuki and Fujimoto, Tsuguto and Hanaoka, Nozomu and Kusunoki, Susumu and Takahashi, Toshiyuki and Oishi, Kazunori and Tanaka-Taya, Keiko and Toyofuku, Etsushi and Fukuyama, Tetsuhiro and Sato, Tatsuharu and Takahashi, Yuya and Kanazawa, Akane and Hiyane, Masato and Fukushima, Takao and Toki, Taira and Hayashi, Ryoko and Kubota, Sonoko and Ishii, Wakako and Akasaka, Manami and Miyazawa, Haruna and Motobayashi, Mitsuo and Asaoka, Mari and Shiihara, Takashi and Miyoshi, Yoshitaka and Tsuru, Tomohiko and Ikeda, Kenta and Matsukura, Masaru and Nakamura, Ryoko and Moriyama, Kengo and Sugawara, Yuji and Takami, Yuichi and Fujita, Takako and Yano, Tamami and Kasai, Mariko and Uchida, Takashi and Fujita, Masashi and Uematsu, Mitsugu and Hata, Atsuko and Ogata, Hideto and Miyamoto, Tomoyuki and Sumi, Kataharu and Ishida, Yu and Takeshita, Eri and Kawazoe, Tomoya and Kawabata, Takayoshi and Miyatake, Chiharu and Yakuwa, Akiko and Kakimoto, Yu and Terashima, Hiroshi and Kubota, Masaya and Abe, Yuichi and Nagura, Michiaki and Yamanouchi, Hideo and Mori, Satomi and Konishi, Yukihiko and Ikegami, Mariko and Tomonaga, Yuko and Takashima, Yumiko and Ichikawa, Kazushi and Moriyama, Nobuko and Oba, Chizu and Kashiwagi, Mitsuru and Yoshikawa, Sosuke and Tanaka, Kenichi and Ohta, Genrei and Hattori, Ayako and Ieda, Daisuke and Ono, Sahoko and Tanimura, Tomoshige and Ban, Kyoko and Sugiyama, Nobuyoshi and Kouzan, Nozomi and Yamada, Yuki and Inoue, Mika and Sakajiri, Kenichi and Ohyama, Ken and Yamamuro, Miho and Ishigaki, Hidetoshi and Seino, Azusa and Igarashi, Shuichi and Nakamoto, Takahito and Sugimoto, Kanae and Ochi, Mitsuhiro and Hamanaka, Eri and Ohi, Kazuki and Kawasaki, Hidefumi and Nishitani, Masahiko and Uno, Hiroshi and Inoue, Masaru and Okuyama, Mai and Yamamoto, Ayako and Sato, Ryota and Azuma, Norihiko and Mabuchi, Sakiko and ... and Acute Flaccid Myelitis Collabo and Acute Flaccid Myelitis Collaborative Study Investigators and for the Acute Flaccid Myelitis Collaborative Study Investigators
Clinical Infectious Diseases, ISSN 1058-4838, 03/2018, Volume 66, Issue 5, pp. 653 - 664
Journal Article
Respirology Case Reports, ISSN 2051-3380, 11/2019, Volume 7, Issue 8, pp. e00475 - n/a
Erdheim‐Chester disease (ECD), a rare form of non‐Langerhans cell histiocytosis, affects long bones, the retroperitoneal region, and the central nervous,... 
random distribution | Langerhans cell histiocytosis | miliary nodules | Erdheim‐Chester disease | Urine | Proteins | Tuberculosis | Cysts | Laboratories | Bones | Diabetes | Mutation | Kinases | Patients | Tumors
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 2506 - 14
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2016, Volume 38, Issue 9, pp. 819 - 826
Abstract Background Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth,... 
Neurology | Asymptomatic | Intellectual disability | White matter abnormality | Magnetic resonance image | Congenital CMV infection | DIAGNOSIS | TERM | CLINICAL NEUROLOGY | WHITE-MATTER LESIONS | GUTHRIE CARDS | HEARING-LOSS | LEUKOENCEPHALOPATHY | POLYMERASE-CHAIN-REACTION | CMV INFECTION | BRAIN | PCR | Brain - diagnostic imaging | Cytomegalovirus Infections - epidemiology | Humans | Cerebral Palsy - physiopathology | Umbilical Cord - microbiology | Child, Preschool | Infant | Cytomegalovirus Infections - complications | Epilepsy - physiopathology | Epilepsy - epidemiology | Young Adult | Asymptomatic Infections | Malformations of Cortical Development - diagnosis | Cerebral Palsy - diagnosis | Malformations of Cortical Development - physiopathology | Polymerase Chain Reaction | Adult | Retrospective Studies | Cytomegalovirus Infections - congenital | Child | Infant, Newborn | Intellectual Disability - epidemiology | Cytomegalovirus - genetics | Cytomegalovirus - isolation & purification | Tissue Preservation | Cerebral Palsy - epidemiology | Cytomegalovirus Infections - diagnosis | Epilepsy - diagnosis | Intellectual Disability - physiopathology | Magnetic Resonance Imaging | White Matter - diagnostic imaging | Malformations of Cortical Development - epidemiology | Intellectual Disability - diagnosis | Adolescent | Medicine, Experimental | Medical research | Cytomegalovirus infections | Genetic disorders | Health aspects | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 496 - 505
Journal Article