I. Butler

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Short‐latency somatosensory evoked potentials in the management of patients with achondroplasia

J. Hecht, W. Goldie, F. Nelson, 1984, Neurology.

Reduction of biogenic amine levels in the Rett syndrome.

H. Zoghbi, V. Riccardi, D. Glaze, 1985, The New England journal of medicine.

Cerebrospinal fluid biogenic amines and biopterin in rett syndrome

H. Zoghbi, S. Milstien, S. Kaufman, 1989, Annals of neurology.

Cerebrospinal fluid studies in the Rett syndrome: Biogenic amines and β-endorphins

I. Butler, S. Budden, E. Myer, 1990, Brain and Development.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

Demographic and clinical features of pediatric patients with orthostatic intolerance and an abnormal head-up tilt table test; A retrospective descriptive study.

A. Gourishankar, I. Butler, S. Hashmi, 2020, Pediatrics and neonatology.

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

J. Lupski, M. Wegner, M. Wilkinson, 2004, Nature Genetics.

Infant with protein C deficiency and stroke in the setting of iron deficiency anemia

I. Butler, Rajan p Patel, T. J. Karim, 2019, Clinical case reports.

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

J. Lupski, I. Butler, P. Mancias, 1998, Nature Genetics.

Regression of Subependymal Giant Cell Astrocytoma With Rapamycin in Tuberous Sclerosis Complex

M. Koenig, H. Northrup, I. Butler, 2008, Journal of child neurology.

Diencephalic syndrome revisited.

I. Butler, A. Slonim, N. Gadoth, 1976, The Journal of pediatrics.

Chronic progressive poliomyelitis secondary to vaccination of an immunodeficient child.

L. Davis, I. Butler, J. Vickers, 1977, The New England journal of medicine.

Movement disorders of children.

I. Butler, 1992, Pediatric clinics of North America.

Language dysfunction in epileptic conditions.

P. Simos, J. Wheless, I. Butler, 2002, Seminars in pediatric neurology.

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

I. Butler, W. Seifert, J. Foxx, 1980, Annals of neurology.

In vivo microdialysis and gas chromatography/mass spectrometry for studies on release of N-acetylaspartlyglutamate and N-acetylaspartate in rat brain hypothalamus

J. Slopis, R. Caprioli, I. Butler, 1995, Journal of Neuroscience Methods.

Diffusion tensor tractography of the somatosensory system in the human brainstem: initial findings using high isotropic spatial resolution at 3.0 T

Larry A. Kramer, Khader M. Hasan, Arash Kamali, 2009, European Radiology.

Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.

M. Brownstein, S. Milstien, I. Butler, 2001, Archives of neurology.

Cerebrospinal Fluid γ-Aminobutyric Acid Correlation with Cerebrospinal Fluid and Blood Constituents and Alterations in Neurological Disorders

B. Brooks, M. Ziegler, S. Enna, 1980 .

Variable phenotype of rapid‐onset dystonia‐parkinsonism

M. Farlow, W. Dobyns, E. Kasarskis, 1996, Movement disorders : official journal of the Movement Disorder Society.

Persistent unilateral tibialis anterior muscle hypertrophy with complex repetitive discharges and myalgia

W. Nix, H. Hopf, H. Hopf, 1992, Neurology.

Biochemical alterations of dopamine receptor responses following chronic L-dopa therapy.

K. Wilner, I. Butler, W. Seifert, 1980, Biochemical pharmacology.

Dopaminergic dsyfunction in Tourette syndrome.

J. Coyle, H. Singer, L. Tune, 1982, Annals of neurology.

Heart, Brain, and Mind

F. F. Perkins, I. Butler, 2005, Journal of child neurology.

Encephalopathy Associated With Respiratory Syncytial Virus Bronchiolitis

C. Cox, Y. Ng, I. Butler, 2001, Journal of child neurology.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

J. Lupski, C. Boerkoel, L. Potocki, 2003, Brain : a journal of neurology.

Neurocutaneous Disorders: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

I. Butler, P. Mancias, 2004 .

Amoxapine Overdose in a Young Man: A Transient Mitochondrial Abnormality?

L. Kramer, I. Butler, P. Mancias, 1995, Pharmacotherapy.

Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance.

J. Lupski, J. Posey, I. Butler, 2017, Pediatric neurology.

Lesch‐nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters

J. Jankovic, J. T. Stout, I. Butler, 1988, Annals of neurology.

CMT4A: Identification of a Hispanic GDAP1 founder mutation

J. Lupski, C. Boerkoel, M. Nakagawa, 2003, Annals of neurology.

Congenital hypomyelinating neuropathy.

Y. Harati, I. Butler, 1985, Journal of neurology, neurosurgery, and psychiatry.

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

S. Dimauro, L. Salberg, R. Lovelace, 2016 .

Neurologic complications associated with respiratory syncytial virus.

J. Bodensteiner, Y. Ng, I. Butler, 2005, Pediatric neurology.

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.

S. Milstien, S. Kaufman, G. Thomas, 1976, The Journal of pediatrics.

Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults.

N. Gadoth, I. Butler, 1976, Archives of internal medicine.

A disorder of biogenic amines in dihydropteridine reductase deficiency

N. Holtzman, S. Koslow, S. Kaufman, 1978, Annals of neurology.

Cardiac Asystole During Head Up Tilt (HUTT) in Children and Adolescents: Is this Benign Physiology?

A. Gourishankar, I. Butler, J. Lankford, 2014, Pediatric Cardiology.

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia.

R. Howell, I. Butler, M. O'Flynn, 1981, The Journal of pediatrics.

Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies.

S. Iannaccone, E. Hoffman, I. Butler, 1999, Genomics.

Neurobehavioral effects of brain injury on children: Hydrocephalus, traumatic brain injury, and cerebral palsy.

J. Fletcher, H. Levin, I. Butler, 1995 .

Gilles de la Tourette syndrome: Further studies and thoughts

H. Singer, I. Butler, J. Pepple, 1978, Annals of neurology.

Juvenile Onset Central Nervous System Folate Deficiency and Rheumatoid Arthritis

M. Koenig, I. Butler, S. Rothenberg, 2008, Journal of child neurology.

Incidence of Papilledema and Obesity in Children Diagnosed With Idiopathic ‘‘Benign’’ Intracranial Hypertension: Case Series and Review

M. Koenig, I. Butler, G. Faz, 2010, Journal of child neurology.

In vivo muscle magnetic resonance spectroscopy in a family with mitochondrial cytopathy: a defect in fat metabolism.

J. Hazle, P. Narayana, J. Slopis, 1989, Magnetic resonance imaging.

Proton magnetic resonance of exercise-induced water changes in gastrocnemius muscle.

P. Narayana, J. Slopis, J. Pivarnik, 1990, Journal of applied physiology.

Treatment-Resistant Eosinophilic Polymyositis in a Child

T. Bohan, M. Bhattacharjee, I. Butler, 1994, Journal of child neurology.

Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.

A. Jonas, I. Butler, 1989, The Journal of clinical investigation.

Huntington's Disease Biogenic Amines in Cerebrospinal Fluid

S. Enna, I. Butler, W. Seifert, 1980 .

Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.

S. Koslow, S. Kaufman, A. Krumholz, 1975, Transactions of the American Neurological Association.

Orthostatic Headaches Associated With Spontaneous Intracranial Hypotension and Autonomic Dysfunction—A Case Series in Young Patients

I. Butler, M. Numan, Ankita Ghosh, 2021, Child neurology open.

A dominantly inherited syndrome with continuous motor neuron discharges

T. Ashizawa, Y. Harati, I. Butler, 1983, Annals of neurology.

Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.

H. Sybers, I. Butler, B. Bergia, 1986, Journal of neurology, neurosurgery, and psychiatry.

Rolandic Type Cerebral Palsy in Children as a Pattern of Hypoxic-Ischemic Injury in the Full-Term Neonate

J. Yeakley, I. Butler, L. Hankins, 1998, Journal of child neurology.

NEUROLOGIC HANDICAPS AFTER LOW OESTRIOL EXCRETIONS IN PREGNANCY

M. Smith, I. Butler, I. Hopkins, 1971, Australian paediatric journal.

Angiostrongylus cantonensis Meningitis and Myelitis, Texas, USA

I. Butler, N. Pérez, G. Heresi, 2017, Emerging infectious diseases.

CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.

R. Howell, F. Morriss, R. Caprioli, 1980, American journal of diseases of children.

Central core disease and malignant hyperthermia syndrome

T. Nelson, Y. Harati, I. Butler, 1980, Annals of neurology.

Central nervous system infections.

I. Butler, R. Johnson, Richard T. Johnson, 1974, Pediatric clinics of North America.

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

W. Craigen, G. Herman, K. Gibson, 1994, Pediatric neurology.

Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.

C. Mehringer, D. Rimoin, R. Pauli, 1985, American journal of medical genetics.

A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors

W. Triggs, A. Berić, I. Butler, 1992, Muscle & nerve.

Infantile herpes Zoster ophthalmicus and acute hemiparesis following intrauterine chickenpox

I. Butler, A. Leis, A. Leis, 1987, Neurology.

Sphenoid Sinusitis Masquerading as Migraine Headaches in Children

I. Butler, Y. Ng, 2001, Journal of child neurology.

Dopaminergic dysfunction in tourette syndrome

J. Coyle, H. Singer, L. Tune, 1982 .

Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a Second Family

S. Milstien, I. Biaggioni, I. Butler, 1997, Journal of child neurology.

Neurologic manifestations of achondroplasia.

J. Bodensteiner, J. Hecht, I. Butler, 2014, Handbook of clinical neurology.

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

J. Hecht, J. Cleaver, G. Thomas, 1992, American journal of human genetics.

Prenatal and postnatal hypothyroidism abolishes lesion‐induced noradrenergic sprouting in the adult rat

I. Butler, Z. Gottesfeld, W. Findley, 1985, Journal of neuroscience research.

Dystrophinopathy in isolated cases of myopathy in females

E. Hoffman, J. Cook, R. Sakuta, 1992, Neurology.

Electron microscopy in the diagnosis of lysosomal storage diseases.

J. Williams, H. Rosenberg, I. Butler, 1987, American journal of medical genetics. Supplement.

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

J. Lupski, C. Boerkoel, M. Scavina, 2002, Annals of neurology.

Progressive neurologic deterioration and renal failure due to storage of glutamyl ribose-5-phosphate.

J. Williams, H. Rosenberg, I. Butler, 1984, The New England journal of medicine.

Bone marrow in the Batten-Vogt syndrome

N. Gadoth, I. Butler, P. O'Croinin, 1975, Journal of the Neurological Sciences.

Glutamyl ribose-5-phosphate storage disease: nephrotic syndrome and cerebral atrophy.

J. Williams, H. Rosenberg, H. Alcalá, 1986, Pediatric pathology.

Neurologic Morbidity Associated With Achondroplasia

J. Hecht, I. Butler, 1990, Journal of child neurology.

Neuroimaging Features of Intracranial Hypertension in Pediatric Patients With New-Onset Idiopathic Seizures, a Comparison With Patients with Confirmed Diagnosis of Idiopathic Intracranial Hypertension: A Preliminary Study

A. Radmanesh, A. Kamali, N. Sheikh-Bahaei, 2021, Journal of child neurology.

Introducing the "Temporal Thumb Sign" in Pediatric Patients With New-Onset Idiopathic Seizures With and Without Elevated Cerebrospinal Fluid Opening Pressure.

A. Kamali, C. Sitton, R. Riascos, 2022, Pediatric neurology.

Mercury-induced autoimmunity: Report of two adolescent siblings with Morvan syndrome “plus” and review of the literature

C. Perez, I. Butler, Ekta G. Shah, 2020, Journal of Neuroimmunology.

Central core disease and malignant hyperthermia syndrome

T. Nelson, Y. Harati, I. Butler, 1980 .

Malignant Hyperthermia: Skeletal Muscle Defect(s) Predisposing to Labile Ca2 + Regulation?

T. Nelson, I. Butler, 1992, Journal of child neurology.

Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

S. Milstien, S. Kaufman, P. Langlais, 1987, The Journal of pediatrics.

Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia.

L. Davis, J. Winkelstein, F. Saulsbury, 1975, The Journal of pediatrics.

Adult-onset cerebral folate deficiency.

M. Koenig, I. Butler, Z. Sadighi, 2012, Archives of neurology.

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation

J. Lupski, K. Szigeti, W. Wiszniewski, 2005, Human mutation.

Pulmonary hypoplasia in the myogenin null mouse embryo.

T. McDonnell, E. Olson, I. Butler, 2000, American journal of respiratory cell and molecular biology.

Cerebral blood flow during HUTT in young patients with orthostatic intolerance

A. Gourishankar, Ian J. Butler, I. Butler, 2015, Clinical Autonomic Research.

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

A. Hadjisavvas, M. Hodes, A. Aydanian, 1998, American journal of medical genetics.

Poliomyelitis-like syndrome in a child with West Nile virus infection.

T. Cleary, I. Butler, P. Mancias, 2004, The Pediatric infectious disease journal.

Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex

M. Koenig, I. Butler, Jennifer L. Muncy, 2009, Journal of child neurology.

Cervical myelopathy due to dural compression in mucopolysaccharidosis.

H. Rosenberg, H. Kaufman, I. Butler, 1982, Surgical neurology.

Myelopathy in neonatal and infantile lupus erythematosus.

E. Kaye, I. Butler, S. Conley, 1987, Journal of Neurology Neurosurgery & Psychiatry.

Neurological basis of respiratory complications in achondroplasia

J. Hecht, M. Miner, W. Horton, 1988, Annals of neurology.

Transient Tonic Upgaze Deviation

I. Butler, J. Lankford, 2013, Journal of child neurology.

EFFECT OF DRUGS ON RAT BRAIN, CEREBROSPINAL FLUID AND BLOOD GABA CONTENT

J. Ferkany, I. Butler, S. Enna, 1979, Journal of Neurochemistry.

Long‐term treatment of juvenile Huntington's chorea with dipropylacetic acid

G. McKhann, D. Bachman, I. Butler, 1977, Neurology.

Hyperp hen y lalaninemia reductase deficiency due to dihydropteridine

S. Milstien, S. Kaufman, G. Thomas, 1976 .

Clinical symptomatology, CSF neurotransmitter metabolites, and serum haloperidol levels in Tourette syndrome.

J. Coyle, H. Singer, L. Tune, 1982, Advances in neurology.

Biogenic amine metabolism in tourette syndrome

R. Caprioli, S. Koslow, H. Singer, 1979, Annals of neurology.

Neurochemical Analysis of Rat Cisternal Cerebrospinal Fluid

J. Ferkany, I. Butler, S. Enna, 1983 .

Dietary Folate and Biogenic Amines in the CNS

I. Butler, S. Rothenberg, 1987, Journal of neurochemistry.

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

J. Kitzman, J. Lupski, A. Nesvizhskii, 2019, The Journal of clinical investigation.

Electroencephalogram Discharges in Atypical Cognitive Development

A. Papanicolaou, R. Frye, E. Castillo, 2010, Journal of child neurology.

Rapid‐onset dystonia‐parkinsonism

X. Breakefield, M. Farlow, W. Dobyns, 1993, Neurology.

Secondary Erythromelalgia Successfully Treated With Intravenous Immunoglobulin

M. Koenig, I. Butler, S. Pacheco, 2012, Journal of child neurology.

Transverse sinus thrombosis in newborns: Clinical and magnetic resonance imaging findings

T. Baram, C. McArdle, I. Butler, 1988, Annals of neurology.

Baroreceptor activity and sensitivity: normal values in children and young adults using the head up tilt test

Liang Zhu, I. Butler, M. Numan, 2019, Pediatric Research.

Interrelationships among serum folate, CSF folate, neurotransmitters, and neuropsychiatric symptoms

H. Singer, I. Butler, S. Rothenberg, 1980 .

Cutaneous manifestations of orthostatic intolerance syndromes

I. Butler, A. Hebert, M. Numan, 2021, International journal of women's dermatology.

Respiratory syncytial virus.

I. Butler, Y. Ng, 2001, The New England journal of medicine.

Glucose Transporter Type I Deficiency Causing Mitochondrial Dysfunction

M. Koenig, I. Butler, J. Lankford, 2012, Journal of child neurology.

FIRST: A Practical Approach to the Causes and Management of Febrile Seizures

K. Holden, I. Butler, Mohammad Reza Mohebbi, 2008, Journal of child neurology.

Regional in vivo proton magnetic resonance spectroscopy of brain

T. Bohan, P. Narayana, J. Wolinsky, 1989 .

The effect of disuse on cholinergic enzymes.

A. Goldberg, D. Drachman, I. Butler, 1978, The Journal of physiology.

1H-MRS of Muscle Physiology and Pathophysiology

E. Jackson, I. Butler, P. Narayana, 1996 .

Recurrent isolated ptosis in presumed ophthalmoplegic migraine of childhood.

I. Butler, D. Stidham, 2000, Ophthalmology.

Neurologic manifestations of Ehlers‐Danlos syndrome

I. Butler, Mark E. Pretorius, 1983, Neurology.

Autosomal dominant torsion dystonia with onset in infancy.

S. Mostofsky, W. Dobyns, P. Blasco, 1996, Pediatric neurology.

Neurological deterioration in adult phenylketonuria

D. Villasana, J. Williams, I. Butler, 1989, Journal of Inherited Metabolic Disease.

Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.

X. Breakefield, M. Farlow, W. Dobyns, 1998, Advances in neurology.

Cerebrospinal fluid homovanillic acid levels in rapid‐onset dystonia‐parkinsonism

M. Farlow, W. Dobyns, A. Brashear, 1998, Annals of neurology.

Proton Magnetic Resonance Imaging and Spectroscopic Studies of the Pathogenesis and Treatment of Juvenile Dermatomyositis

J. Slopis, E. Jackson, P. Narayana, 1993, Journal of child neurology.

Biogenic amine synthesis defect in dihydropteridine reductase deficiency

S. Koslow, I. Butler, 1977, Science.

Neuropsychological characteristics of children with Tourette syndrome: evidence for a nonverbal learning disability?

J. Fletcher, L. Ewing-Cobbs, B. Brookshire, 1994, Journal of clinical and experimental neuropsychology.

Lumbar Spinal Stenosis Causing Congenital Clubfoot

Y. Ng, I. Butler, P. Mancias, 2002, Journal of child neurology.

When Epilepsy Interferes With Word Comprehension: Findings in Landau-Kleffner Syndrome

A. Papanicolaou, A. Passaro, E. Castillo, 2008, Journal of child neurology.

Oculomotor executive function abnormalities with increased tic severity in Tourette syndrome.

Jeffrey S. Morris, Saumil S. Patel, A. Sereno, 2015, Journal of child psychology and psychiatry, and allied disciplines.

Chronology of neurochemical alterations induced by GABA agonist administration.

S. Enna, J. Ferkany, I. Butler, 1981, Advances in biochemical psychopharmacology.

Severe narrowing of left cavernous carotid artery associated with Fusobacterium necrophorum infection.

I. Butler, G. Heresi, J. Murphy, 2013, Anaerobe.

Cerebrovascular Disorders of Childhood

I. Butler, 1993, Journal of child neurology.

The Behavioral Sciences and Issues in Child Neurology and Developmental Pediatrics

J. Fletcher, I. Butler, 1992, Journal of child neurology.

Trigeminal Myokymia in a Young Girl

I. Butler, P. Mancias, 2003, Journal of child neurology.

Phenylketonuria due to a deficiency of dihydropteridine reductase.

N. Holtzman, S. Milstien, S. Kaufman, 1975, The New England journal of medicine.

Autologous Adipose Stem Cell Therapy for Autonomic Nervous System Dysfunction in Two Young Patients

I. Butler, M. Numan, A. Kamdar, 2017, Stem cells and development.

Catecholamines in rat brain following postnatal undernutrition and nutritional rehabilitation

R. Wiggins, I. Butler, G. Fuller, 1982, Journal of Neuroscience Research.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

L. Salberg, R. Lovelace, H. Mitsumoto, 1994, Neurology.

Patterns of electromagnetic activity recorded from neoplastic tissue

A. Papanicolaou, J. Slopis, E. Castillo, 2011, Journal of Neuro-Oncology.