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Journal Articles

Variability in Cerebral Palsy Diagnosis

Bhooma R. Aravamuthan, MD, DPhil, Darcy Fehlings, MD, Sheetal Shetty, PhD, Michael Fahey, PhD, FRACP, Laura Gilbert, DO, MBA ...

Pediatrics (2021) 147 (2): e2020010066.

Published: February 2021

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Includes: Supplementary data

Journal Articles

X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination

Uma Varma, MRCPCH, Devdeep Mukherjee, DCH, MRCPCH, Imelda Hughes, FRCP, Chitra Sethuraman, MD, FRCPath, Susan Kamupira, MRCPCH

Pediatrics (2020) 146 (3): e20182879.

Published: September 2020

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Journal Articles

Results from the Cure SMA Newly Diagnosed Survey

Lisa Belter, MPH, Kenneth Hobby, MBA, Rosangel Cruz, MA, Jill Jarecki, PhD, Cynthia C. Jones, PhD ...

Pediatrics (2019) 144 (2_MeetingAbstract): 389.

Published: August 2019

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Journal Articles

Hypotonia and Lethargy in a Two-Day-Old Male Infant

Adrienne H. Long, MD, Jennifer G. Fiore, MD, Riaz Gillani, MD, Laurie M. Douglass, MD, Alan M. Fujii, MD ...

Pediatrics (2019) 144 (1): e20180788.

Published: July 2019

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Journal Articles

Hbs1L mutation causes destabilization of Pelota protein and leads to growth restriction, skeletal dysplasia, retinal pigmentation, and hypotonia in humans and mice

Amy E. O'Connell, MD, PhD, FAAP, Siqi Cao, B.S., Marie-Francoise O'Donohue, Ph.D., Pankaj Agrawal, M.B.B.S., M.S.

Pediatrics (2018) 142 (1_MeetingAbstract): 251.

Published: May 2018

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Journal Articles

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

Jamie Campbell, MRCPCH, David R. FitzPatrick, MD, Tara Azam, Neil A. Gibson, MD, Laura Somerville, MRCPCH ...

Pediatrics (2018) 141 (Supplement_5): S485–S490.

Published: April 2018

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Includes: Supplementary data

Journal Articles

Infant Neuromotor Development and Childhood Problem Behavior

Fadila Serdarevic, MD, Akhgar Ghassabian, MD, Tamara van Batenburg-Eddes, PhD, Emin Tahirovic, PhD, Tonya White, MD ...

Pediatrics (2017) 140 (6): e20170884.

Published: December 2017

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Includes: Supplementary data

Journal Articles

My Concerns About the AAP Clinical Report on “Motor Delays: Early Identification and Evaluation”

Kevin P. Marks, MD, FAAP

Pediatrics (2013) 132 (5): e1449–e1450.

Published: November 2013

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Journal Articles

Authors’ Response: Re: My Concerns About the American Academy of Pediatrics Clinical Report on “Motor Delays: Early Identification and Evaluation”

Garey Noritz, MD, FAAP, Nancy Murphy, MD, FAAP, FAAPMR, and Neuromotor Screening Expert Panel

Pediatrics (2013) 132 (5): e1450–e1451.

Published: November 2013

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Journal Articles

Motor Delays: Early Identification and Evaluation

Garey H. Noritz, MD, Nancy A. Murphy, MD, NEUROMOTOR SCREENING EXPERT PANEL, Nancy A. Murphy, MD, Joseph F. Hagan, Jr, MD ...

Pediatrics (2013) 131 (6): e2016–e2027.

Published: June 2013

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Journal Articles

Earliest Appropriate Time for Administering Neurobehavioral Assessment in Newborn Infants

Yingying Xu, MS, MA, Kimberly Yolton, PhD, Jane Khoury, PhD

Pediatrics (2011) 127 (1): e69–e75.

Published: January 2011

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Journal Articles

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

Anne Philippe, MD, PhD, Nathalie Boddaert, MD, PhD, Laurence Vaivre-Douret, PhD, Laurence Robel, MD, PhD, Laurent Danon-Boileau, PhD ...

Pediatrics (2008) 122 (2): e376–e382.

Published: August 2008

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Journal Articles

A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay

Anastasios Papadimitriou, MD, Alexandra Mihaela Dumitrescu, MD, PhD, Antigone Papavasiliou, MD, Andreas Fretzayas, MD, Polyxeni Nicolaidou, MD ...

Pediatrics (2008) 121 (1): e199–e202.

Published: January 2008

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Journal Articles

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Michael J. Friez, PhD, Julie R. Jones, PhD, Katie Clarkson, MD, Herbert Lubs, MD, Dianne Abuelo, MD ...

Pediatrics (2006) 118 (6): e1687–e1695.

Published: December 2006

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Journal Articles

Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum

Melanie A. Manning, MD, Suzanne B. Cassidy, MD, Carol Clericuzio, MD, Athena M. Cherry, PhD, Stuart Schwartz, PhD ...

Pediatrics (2004) 114 (2): 451–457.

Published: August 2004

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Journal Articles

Range of Neurologic Disorders in Patients With Celiac Disease

Nathanel Zelnik, MD, Avi Pacht, MD, Raid Obeid, MD, Aaron Lerner, MD

Pediatrics (2004) 113 (6): 1672–1676.

Published: June 2004

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Journal Articles

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

Levinus A. Bok, MD, Peter Vreken, PhD, Frits A. Wijburg, MD, PhD, Ronald J. A. Wanders, PhD, Niels Gregersen, PhD ...

Pediatrics (2003) 112 (5): 1152–1155.

Published: November 2003

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Journal Articles

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients

Margarethe E. J. den Boer, MD, Ronald J. A. Wanders, PhD, Andrew A. M. Morris, MD, PhD, Lodewijk IJlst, Hugo S. A. Heymans, MD, PhD ...

Pediatrics (2002) 109 (1): 99–104.

Published: January 2002

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Journal Articles

Congenital Hypomyelination Neuropathy in a Newborn Infant: Unusual Cause of Diaphragmatic and Vocal Cord Paralyses

Jin S. Hahn, MD, Marion Henry, Louanne Hudgins, MD, Ashima Madan, MD

Pediatrics (2001) 108 (5): e95.

Published: November 2001

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Journal Articles

Hypotonic–Hyporesponsive Episodes Reported to the Vaccine Adverse Event Reporting System (VAERS), 1996–1998

Tracy S. DuVernoy, DVM, M. Miles Braun, MD, the VAERS Working Group

Pediatrics (2000) 106 (4): e52.

Published: October 2000

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NARROW

Variability in Cerebral Palsy Diagnosis

X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination

Results from the Cure SMA Newly Diagnosed Survey

Hypotonia and Lethargy in a Two-Day-Old Male Infant

Hbs1L mutation causes destabilization of Pelota protein and leads to growth restriction, skeletal dysplasia, retinal pigmentation, and hypotonia in humans and mice

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

Infant Neuromotor Development and Childhood Problem Behavior

My Concerns About the AAP Clinical Report on “Motor Delays: Early Identification and Evaluation”

Authors’ Response: Re: My Concerns About the American Academy of Pediatrics Clinical Report on “Motor Delays: Early Identification and Evaluation”

Motor Delays: Early Identification and Evaluation

Earliest Appropriate Time for Administering Neurobehavioral Assessment in Newborn Infants

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum

Range of Neurologic Disorders in Patients With Celiac Disease

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients

Congenital Hypomyelination Neuropathy in a Newborn Infant: Unusual Cause of Diaphragmatic and Vocal Cord Paralyses

Hypotonic–Hyporesponsive Episodes Reported to the Vaccine Adverse Event Reporting System (VAERS), 1996–1998

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