• KOLs
  • Static Encephalopathy

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#1
Hirotomo Saitsu
Hirotomo Saitsu
From the Departments of Human Genetics (S.M., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of ...
Known for star star star star star
Intellectual Disability | Developmental Delay | West Syndrome | Epileptic Encephalopathy
#2
Susan A. Rethlefsen
Susan A. Rethlefsen
From *Children's Orthopaedic Center, Children's Hospital Los Angeles, Los Angeles, CA; †Department of Orthopaedics, University of Southern California, Los Angeles, CA; and ...
Known for star star star star star
Cerebral Palsy | Spina Bifida | Hamstring Lengthening | Knee Pain

#3
Satoko Kumada
Satoko Kumada
From the Department of Brain & Neurosciences (H.N., K.K., A.H., K.M., H.S.), Tokyo Metropolitan Institute of Medical Science; Department of Neuropediatrics (S.K.), Tokyo ...
Known for star star star star star_half
Oxidative Stress | Telomere Length | Spinal Muscular Atrophy | Basal Ganglia
#4
Emi Kasai-Yoshida
Emi Kasai-Yoshida
Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
Known for star star star star star_half
Static Encephalopathy | Hippocampal Sclerosis | Novo Mutations | Short-Lived Plasmablasts
#5
Mary L. Zupanc
Mary L. Zupanc
New York University‐Mount Sinai Comprehensive Epilepsy Center, New York, NY, U.S.A
Known for star star star star star_half
Static Encephalopathy | Violent Recurrent Ballism | Recurrent Episodes | Developmental Delays
#6
Monica A. Beran‐Koehn
Monica A. Beran‐Koehn
Department of Neurology, Mayo Clinic, Rochester, Minnesota, U.S.A
Known for star star star star star_half
Static Encephalopathy | Zinc Finger | Segmentation Gene | Cerebro-Cerebellar Diaschisis
#7
Douglas G. Olk
Douglas G. Olk
Medical Associates Clinic, Department of Pediatrics, Dubuque, Iowa, U.S.A
Known for star star star star star_half
Static Encephalopathy | Haemophilus Parainfluenzae | Vertebral Osteomyelitis | Violent Recurrent Ballism
#8
Akihiro Hoshino
Akihiro Hoshino
Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
Known for star star star star star_half
Acute Encephalopathy | Xiap Deficiency | Ipex Syndrome | Ctla4 Mutations
#9
Kiyomi Nishiyama
Kiyomi Nishiyama
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
Known for star star star star star_half
Novo Mutations | Epileptic Encephalopathy | Ohtahara Syndrome | Targeted Capture
#10
Hirofumi Kodera
Hirofumi Kodera
From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, ...
Known for star star star star star_half
Gabra1 Mutations | Epileptic Encephalopathy | Targeted Capture | Ohtahara Syndrome
#11
Hiroya Nishida
Hiroya Nishida
Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan
Known for star star star star star_half
Telomere Length | Ataxia Telangiectasia | Diagnostic Criteria | Snord118 Mutations
#12
Tadashi Ozawa
Tadashi Ozawa
Division of Neurology, Department of Medicine, Jichi Medical University School of Medicine, Shimotsuke, Japan
Known for star star star star star_half
Foam Sclerotherapy | Ischemic Stroke | Amyloid Deposit | Vertical Gaze Palsy
#13
Seiichiro Yoshioka
Seiichiro Yoshioka
Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan
Known for star star star star star_half
Kabuki Syndrome | Cortical Dysplasia | Progressive Expansion | Static Encephalopathy
#14
Fukiko Ryujin
Fukiko Ryujin
Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan
Known for star star star star star_half
Novo Mutations | Static Encephalopathy | Cortical Subarachnoid Hemorrhage | Reversible Cerebral Vasoconstriction Syndrome
#15
Noriko Sawaura
Noriko Sawaura
Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan
Known for star star star star star_half
Refractory Epilepsy | Biphasic Seizures | Tau Protein | Novo Mutations
#16
Christopher Lening
Christopher Lening
School of Medicine, Georgetown University School of Medicine, Washington, DC
Known for star star star star star_half
Excessive Hip Flexion | Liver Transplantation | Ambulatory Children | Static Encephalopathy
#17
Shinsuke Maruyama
Shinsuke Maruyama
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
Known for star star star star star_half
Static Encephalopathy | Diffusion Tensor Imaging | Repeat Length | Substantia Nigra

 

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Optic Nerve Head Morphology In Children With Perinatal Onset Static...

[ CLINICAL_TRIAL ] Hypothesis: Children born prematurely (between 8 and 9 months) with brain damage have an abnormal appearance of the optic nerve (nerve in eye) that resembles glaucoma (cupping) compared to those ...
Known for star star star star star
Optic Nerve | Static Encephalopathy | Glaucoma Children | Eye Appearance

De Novo Mutations In The Autophagy Gene Wdr45 Cause Static Encephalopathy Of...

[ PUBLICATION ] ... cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.
Known for star star star star star_border
Novo Mutations | Static Encephalopathy | Autophagy Gene | Hirotomo Saitsu

Mri, Mr Spectroscopy, And Diffusion Tensor Imaging Findings In Patient With...

[ PUBLICATION ]
Known for star star star star star_border
Static Encephalopathy | Diffusion Tensor Imaging | Substantia Nigra | Brain Mri

A Novel Wdr45 Mutation In A Patient With Static Encephalopathy Of Childhood With...

[ PUBLICATION ] ... diagnosis.
Known for star star star star star_border
Static Encephalopathy | Wdr45 Mutation | Characteristic Mri | Brain Iron Accumulation

De Novo Missense Variant In The Gtpase Effector Domain (Ged) Of Dnm1l Leads To...

[ PUBLICATION ] ... with static encephalopathy, a history of seizures, and nystagmus, in whom a nove
Known for star star star star star_border
Gtpase Effector Domain | Static Encephalopathy | Novo Missense | Crucial Role

Results And Complications After Spinal Fusion For Neuromuscular Scoliosis In...

[ PUBLICATION ] ... and static encephalopathy, using Luque-Galveston technique, with emphasis on the early and late complications, especially those increasing the hospital stay or requiring additional ...
Known for star star star star star_border
Neuromuscular Scoliosis | Cerebral Palsy | Spinal Fusion | Static Encephalopathy

Violent Recurrent Ballism Associated With Infections In Two Children With Static...

[ PUBLICATION ] ... in static encephalopathy with developmental delays and relatively fixed motor and cognitive deficits. We describe two boys with static encephalopathy who experienced recurrent episodes of ...
Known for star star star star star_border
Static Encephalopathy | Violent Recurrent Ballism | Recurrent Episodes | Mild Choreoathetosis

Creatine Transporter Deficiency In Two Adult Patients With Static Encephalopathy

[ PUBLICATION ] Creatine transporter deficiency is a recently identified X-linked inborn error of metabolism. The natural course of the disease is not well delineated since clinical data from adult patients ...
Known for star star star star star_border
Creatine Transporter Deficiency | Static Encephalopathy | Mental Retardation | Movement Disorders

Excessive Hip Flexion During Gait In Patients With Static Encephalopathy

[ PUBLICATION ] ... including static and dynamic range of motion, strength measurements, and patient factors including age, previous surgery, distribution of inv
Known for star star star star star_border
Excessive Hip Flexion | Static Encephalopathy | Stance Phase | Pelvic Tilt

Cerebrospinal Fluid Brain Injury Biomarkers In Children: A Multicenter Study

[ PUBLICATION ] BACKGROUND: Cerebrospinal fluid (CSF) biomarkers reflecting neuronal and astroglial injury, such as total tau (T-tau), glial fibrillary acidic protein (GFAP), and neurofilament light (NFL), have ...
Known for star star star star star_border
Cerebrospinal Fluid Brain Injury | Progressive Encephalopathy | Biomarkers Tau | Albumin Ratio