Works matching IS 2329048X AND DT 2017 AND VI 4

Results: 23

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17738625

By:

Coman, David;
Fullston, Tom;
Shoubridge, Cheryl;
Leventer, Richard;
Wong, Flora;
Nazaretian, Simon;
Simpson, Ian;
Gecz, Josef;
McGillivray, George

Publication type:

Article

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17737638

By:

Xinying Han, Velda;
Tan, Teresa S.;
Wang, Furene S.;
Kiat-Hong Tay, Stacey

Publication type:

Article

Distal 22q11.2 Microduplication: Case Report and Review of the Literature.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17737651

By:

Pinchefsky, Elana;
Laneuville, Laurence;
Srour, Myriam

Publication type:

Article

Phenotypic Heterogeneity of the m.14459G>A Mutation.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17737224

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17733214

By:

Hsu, Tina;
Coughlin, Carrie C.;
Monaghan, Kristin G.;
Fiala, Elise;
McKinstry, Robert C.;
Paciorkowski, Alex R.;
Shinawi, Marwan

Publication type:

Article

Effect of Menstrual Cycle on Acute Intermittent Porphyria.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17736170

By:

Souza Júnior, V. R.;
Lemos, V. M. V.;
Feitosa, I. M. L.;
Florencio, R.;
Correia, C. W. B.;
Correia Fontes, L. B.;
Hazin Costa, M. F.;
Correia, M. C. B.

Publication type:

Article

Performance Monitoring in Children Following Traumatic Brain Injury Compared to Typically Developing Children.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17732713

By:

Wilkinson, Amy A.;
Dennis, Maureen;
Taylor, Margot J.;
Guerguerian, Anne-Marie;
Boutis, Kathy;
Choong, Karen;
Campbell, Craig;
Fraser, Douglas;
Hutchison, Jamie;
Schachar, Russell

Publication type:

Article

Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17733215

By:

Sahly, Ahmed;
Gauquelin, Laurence;
Sébire, Guillaume

Publication type:

Article

Symptomatic Neonatal Arterial Ischemic Stroke With Prenatal and Postnatal Neuroimaging.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17730460

By:

Pulver, Mati;
Juhkami, Kristiina;
Loorits, Dagmar;
Ilves, Pilvi;
Kuld, Jaanika;
Õiglane-Šlik, Eve;
Metsvaht, Tuuli;
Laugesaar, Rael

Publication type:

Article

Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17730742

By:

Alfadhel, Majid;
Al-Bluwi, Amal

Publication type:

Article

A Rare Syndrome of GRID2 Deletion in 2 Siblings.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17726168

By:

Veerapandiyan, Aravindhan;
Enner, Stephanie;
Thulasi, Venkatraman;
Ming, Xue

Publication type:

Article

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17725610

By:

Thulasi, Venkatraman;
Veerapandiyan, Aravindhan;
Pletcher, Beth A.;
Tong, Chun M.;
Ming, Xue

Publication type:

Article

Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17725609

By:

Gipson, Tanjala T.;
Poretti, Andrea

Publication type:

Article

Epileptic Negative Myoclonus as the First and Only Symptom in a Challenging Diagnosis of Benign Epilepsy With Centrotemporal Spikes.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17715965

By:

Jing Chen;
Guo Zheng;
Hu Guo;
Xiaopeng Lu;
Chunfeng Wu;
Xiaoyu Wang;
Wei Tao

Publication type:

Article

Evidence of the Effectiveness of Primary Brachial Plexus Surgery in Infants With Obstetric Brachial Plexus Palsy–Revisited.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048x17709395

By:

El-Sayed, Amel A. F.

Publication type:

Article

Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17706794

By:

Gontika, Maria P.;
Konialis, Christopher;
Pangalos, Constantine;
Papavasiliou, Antigone

Publication type:

Article

Hyperostosis Frontalis Interna in a Child With Severe Traumatic Brain Injury.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17700556

By:

Yaxiong Li;
Xin Wang;
Yan Li

Publication type:

Article

Visceral Hyperalgesia: When to Consider Gabapentin Use in Neonates-Case Study and Review.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17693123

By:

Asaro, Joseph;
Robinson, Christine A.;
Levy, Philip T.

Publication type:

Article

Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17691396

By:

Al Yazidi, Ghalia;
Shevell, Michael I.;
Srour, Myriam

Publication type:

Article

The Effect of Noninvasive Positive Pressure Ventilation on Pneumonia Hospitalizations in Children With Neurological Disease.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X16689021

By:

Zaman-Haque, Abeyat;
Campbell, Craig;
Radhakrishnan, Dhenuka

Publication type:

Article

Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X16688125

By:

Fairthorne, Jenny;
de Klerk, Nick;
Leonard, Helen M.;
Schieve, Laura A.;
Yeargin-Allsopp, Marshalyn

Publication type:

Article

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X16687887

By:

Udwadia-Hegde, Anaita;
Hajirnis, Omkar

Publication type:

Article

Seven-Digit Creatine Kinase in Acute Rhabdomyolysis in a Child.

Published in:

Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X16684396

By:

Basheer, Nuha;
Mneimneh, Sirin;
Rajab, Mariam

Publication type:

Article