Member, Brain Research Institute, UCLA School of Medicine
Neurology
Dr. Michel P. Philippart, MD
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Michel P. Philippart, MD practices Neurology. He has 1 awards "Super Doctor". Michel P. Philippart, MD is a published doctor and has 99 publications published. The lastest was: 'Angelman syndrome: correlations between epilepsy phenotypes and genotypes.'
Publications
- Timing in Neural Maturation: Arrest, Delay, Precociousness, and Temporal Determination of Malformations.
- Genotype-phenotype correlation in vanishing white matter disease.
- Pathology-epitomes of progress: amniocentesis.
- Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
- [Polymorphism of neurofibromatosis: 2 familial cases; a case of crossed gigantism].
- [Hereditary neurofibromatosis with a wide phenotypic spectrum (the family Sn.)].
- [Diagnostic value of agar electrophoresis in cases of hyperalbuminorachia].
- [Unusual types of course of polyradiculitis with cerebrospinal fluid dissociation (Guillain-Barre type) (recurring and chronic forms). (Critical evaluation of corticos...
- ISOLATION AND CHARACTERIZATION OF THE MAIN SPLENIC GLYCOLIPIDS IN THE NORMAL ORGAN AND IN GAUCHER''S DISEASE: EVIDENCE FOR THE SITE OF METABOLIC BLOCK.
- HEREDITARY PARTIAL AGENESIS OF THE CORPUS CALLOSUM. BIOCHEMICAL AND HISTOLOGICAL STUDIES.
- CEREBRAL LIPIDS IN MAPLE SYRUP DISEASE.
- HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.
- [CLINICAL AND BIOLOGICAL STUDY OF A CASE OF PHEOCHROMOCYTOMA].
- [Subacute progressive anterior poliomyelitis. Its place among the abiotrophies].
- Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination.
- Rett and Angelman's syndromes: models of arrested development.
- Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits.
- Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
- MeCP2 mutations in children with and without the phenotype of Rett syndrome.
- Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
- Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
- The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders (so-called Batten or neuronal ce...
- Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
- Brainstem frequency-following responses in Rett syndrome.
- Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.
- Treatment of painful crises of Fabry disease with morphine.
- Multiple sclerosis in childhood.
- Spielmeyer-Vogt (Batten, Spielmeyer-Sjögren) disease. Distinctive patterns of cerebral glucose utilization.
- Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain.
- New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.
- Neuronal ceroid-lipofuscinosis: late infantile form or juvenile form?
- SSPE and interferon.
- Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development.
- Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.
- Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome.
- Review article: mucolipidosis IV.
- Congenital corneal opacification secondary to Bowman's layer dysgenesis.
- Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukoDystrophy.
- Peripheral hemodynamics in patients with Fabry's disease.
- Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.
- Value of C26:O fatty acid determination for the diagnosis of atypical adrenoleukoDystrophy.
- Concentration and fatty acid composition of cerebrosides and sulfatides in mature and immature human brain.
- Fabry''s disease with hypogammaglobulinemia and without angiokeratomas.
- [Fucosidosis: a new congenital error of metabolism].
- A study of Fabry''s disease. I. Clinical examination of a family with cornea verticillata.
- Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker''s group C).
- Urinary glycolipids in Fabry''s disease. Their examination in the detection of atypical variants and the pre-symptomatic state.
- Wolman''s disease.
- Cholestanol storage in the nervous system of two patients with cerebrotendinous xanthomatosis.
- [LeukoDystrophy with strio-cerebellar calcification, microcephaly and dwarfism].
- Glycolipid alterations in Niemann-Pick disease (Crocker type C).
- Wolman''s disease. Distribution and significance of the central nervous system lesions.
- [On 2 cases of Niemann-Pick disease. Chronic form with delayed neurologic involvement].
- [A new disease caused by accumulation of glycolipids. (Ceramide tetrahexosides)].
- [Demyelination of the central nervous system associated with adrenocortical atrophy].
- [An essay of biochemical classification of lipidoses].
- Fabry''s disease as an -galactosidosis: evidence for an -configuration in trihexosyl ceramide.
- Peculiar dysmorphic syndrome with orthochromatic leucoDystrophy. Discussion of its relationship with Cockayne''s syndrome and Pelizaeus-Merzbacher''s disease.
- Cerebrotendinous xanthomatosis: a generalized disorder of cholestanol metabolism.
- [New research on cerebro-tendinal xanthomatosis].
- Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family.
- Human urinary sulfatides in patients with sulfatidosis (metachromatic leukoDystrophy).
- Niemann-Pick disease (Crocker''s group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome.
- [Thin-layer chromatographic examination of the lipids of the central nervous system in human lipidosis. (Preliminary note)].
- [Gargoylism].
- Biochemical methods in the detection and diagnosis of metabolic diseases affecting the nervous system.
- The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions.
- Psychosis in Fabry disease and treatment with phenoxybenzamine.
- [Sandhoff''s disease (GM2 gangliosidosis, type 2). Clinical, biochemical and anatomo-clinical study].
- Alpha-N-acetylgalactosaminidase: isolation, properties and distribution of the human enzyme.
- Alpha-galactosidic configuration in ceramide trihexoside synthesized by rat spleen homogenate.
- Renal transplantation in Fabry''s disease.
- Reversal of an inborn sphingolipidosis (Fabry''s disease) by kidney transplantation.
- Phosphodiesterases in human tissues. II. Decreased hydrolysis of synthetic substrate by tissues from patients with the Niemann-Pick syndrome.
- Phosphodiesterases in human tissues. I. Identification and separation of enzymes active on bis(p-nitrophenyl)phosphate.
- Leroy''s l-cell disease: markedly increased activity of plasma acid hydrolases.
- Roentgenographic manifestations of Leroy''s I-cell disease.
- Fabry disease: kidney transplantation as an enzyme replacement technic.
- Letter: Priapism after phenoxybenzamine in a patient with Fabry''s disease.
- Letter: Urinary sphingomyelin in Niemann-Pick disease.
- Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features.
- Kidney transplantation in Fabry''s disease.
- Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler''s syndrome.
- [Juvenile cerebral spongiosis].
- Rett syndrome. A commonly overlooked progressive encephalopathy in girls.
- Biochemical findings after bone marrow transplantation for metachromatic leukoDystrophy: a preliminary report.
- Diagnosis and treatment of typical and atypical forms of lipopigment storage disorders.
- Clinical recognition of Rett syndrome.
- Ocular features of the Hagberg-Santavuori syndrome.
- Bone-marrow transplantation for metachromatic leucoDystrophy.
- The Rett syndrome in males.
- Ninety-five percent splenectomy for massive splenomegaly: a new surgical approach.
- Difference in early development of presumed monozygotic twins with Rett syndrome.
- Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
- Handwringing in Rett syndrome: a normal developmental stage.
- Letter: Implications of cerebroside-beta-galactosidase.
- Chemical induction of lysosomal storage.
- Mannosidosis: findings in cultured fibroblasts and urine.
Schools
Free University of Brussels Faculty of Medicine And Pharmacy
St Pierre Hospital
Bunge Institute
Hospital Enfants Malades
Neuropsy Centrum
Johns Hopkins Hospital
Conditions Treated
- Convulsions
- Muscular Dystrophy (MD)
Doctors Specialties
- Pediatric Neurology
- Neurology
Accepted Insurances
- Choice Plus POS II
- Blue Card PPO
- Basic Exclusive PPO for Small Business
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Covered California - Bronze PPO
- Health Net PPO
- Individual and Family PPO
- Medicaid
- Medicare MCR
- Heritage Signature
Awards
- Super Doctor
Hospital
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Ronald Reagan UCLA Medical Center
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