PubMed

Leukoencephalopathy, cerebral calcifications, and cysts: new observations.

Nagae-Poetscher LM, Bibat G, Philippart M, Rosemberg S, Fatemi A, Lacerda MT, Costa MO, Kok F, Costa Leite C, Horská A, Barker PB, Naidu S.

Neurology. 2004 Apr 13;62(7):1206-9.PMID: 15079028 [PubMed - indexed for MEDLINE]Related articles

Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination.

Blüml S, Philippart M, Schiffmann R, Seymour K, Ross BD.

Neurology. 2003 Sep 9;61(5):648-54.PMID: 12963756 [PubMed - indexed for MEDLINE]Related articles

Rett and Angelman's syndromes: models of arrested development.

Philippart M.

Pediatr Neurol. 2001 Oct;25(4):288-94. Review.PMID: 11704397 [PubMed - indexed for MEDLINE]Related articles

Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits.

Philippart M, Mena I, Wisniewski KE, Pineda G.

Eur J Paediatr Neurol. 2001;5 Suppl A:185-7.PMID: 11588994 [PubMed - indexed for MEDLINE]Related articles

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.

Wisniewski KE, Zhong N, Philippart M.

Neurology. 2001 Aug 28;57(4):576-81. Review.PMID: 11548735 [PubMed - indexed for MEDLINE]Related articles

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S.

Neurology. 2001 Jun 12;56(11):1486-95.PMID: 11402105 [PubMed - indexed for MEDLINE]Related articles

Angelman syndrome: correlations between epilepsy phenotypes and genotypes.

Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV.

Ann Neurol. 1998 Apr;43(4):485-93.PMID: 9546330 [PubMed - indexed for MEDLINE]Related articles

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.

Hum Mol Genet. 1998 Feb;7(2):291-7. Erratum in: Hum Mol Genet 1998 Apr;7(4):765. PMID: 9425237 [PubMed - indexed for MEDLINE]Related articlesFree article

The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders (so-called Batten or neuronal ceroid lipofuscinoses).

Philippart M, da Silva E, Chugani HT.

Neuropediatrics. 1997 Feb;28(1):74-6.PMID: 9151330 [PubMed - indexed for MEDLINE]Related articles

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE.

Neuropediatrics. 1997 Feb;28(1):21-2.PMID: 9151314 [PubMed - indexed for MEDLINE]Related articles

Brainstem frequency-following responses in Rett syndrome.

Galbraith GC, Philippart M, Stephen LM.

Pediatr Neurol. 1996 Jul;15(1):26-31.PMID: 8858697 [PubMed - indexed for MEDLINE]Related articles

Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.

Philippart M, Carrel RE, Landing BH.

Neurochem Res. 1995 Nov;20(11):1323-8.PMID: 8786818 [PubMed - indexed for MEDLINE]Related articles

Treatment of painful crises of Fabry disease with morphine.

Philippart M.

Pediatr Neurol. 1995 Oct;13(3):268. No abstract available. PMID: 8554670 [PubMed - indexed for MEDLINE]Related articles

New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.

Philippart M, Chugani HT, Bateman JB.

Am J Med Genet. 1995 Jun 5;57(2):160-4.PMID: 7668322 [PubMed - indexed for MEDLINE]Related articles

Neuronal ceroid-lipofuscinosis: late infantile form or juvenile form?

Philippart M, Chugani B.

Brain Dev. 1995 May-Jun;17(3):225. No abstract available. PMID: 7573768 [PubMed - indexed for MEDLINE]Related articles

Spielmeyer-Vogt (Batten, Spielmeyer-Sjögren) disease. Distinctive patterns of cerebral glucose utilization.

Philippart M, Messa C, Chugani HT.

Brain. 1994 Oct;117 ( Pt 5):1085-92.PMID: 7953590 [PubMed - indexed for MEDLINE]Related articles

Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain.

Cornford ME, Philippart M, Jacobs B, Scheibel AB, Vinters HV.

J Child Neurol. 1994 Oct;9(4):424-31.PMID: 7822737 [PubMed - indexed for MEDLINE]Related articles

SSPE and interferon.

Philippart M.

Brain Dev. 1994 Mar-Apr;16(2):168. No abstract available. PMID: 7519415 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development.

Philippart M.

Am J Med Genet. 1993 Dec 15;48(4):229-30.PMID: 7510933 [PubMed - indexed for MEDLINE]Related articles

Multiple sclerosis in childhood.

Philippart M, Curran JG.

Brain Dev. 1993 Jan-Feb;15(1):85. No abstract available. PMID: 8338216 [PubMed - indexed for MEDLINE]Related articles

Handwringing in Rett syndrome: a normal developmental stage.

Philippart M.

Pediatr Neurol. 1992 May-Jun;8(3):197-9.PMID: 1622515 [PubMed - indexed for MEDLINE]Related articles

Difference in early development of presumed monozygotic twins with Rett syndrome.

Bruck I, Philippart M, Giraldi D, Antoniuk S.

Am J Med Genet. 1991 Jun 15;39(4):415-7.PMID: 1715129 [PubMed - indexed for MEDLINE]Related articles

Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.

Guerra WF, Verity MA, Fluharty AL, Nguyen HT, Philippart M.

J Neuropathol Exp Neurol. 1990 Jul;49(4):406-23. Review.PMID: 1694540 [PubMed - indexed for MEDLINE]Related articles

Ninety-five percent splenectomy for massive splenomegaly: a new surgical approach.

Fonkalsrud EW, Philippart M, Feig S.

J Pediatr Surg. 1990 Feb;25(2):267-9.PMID: 2303995 [PubMed - indexed for MEDLINE]Related articles

The Rett syndrome in males.

Philippart M.

Brain Dev. 1990;12(1):33-6.PMID: 2344022 [PubMed - indexed for MEDLINE]Related articles

Diagnosis and treatment of typical and atypical forms of lipopigment storage disorders.

Philippart M.

Am J Med Genet Suppl. 1988;5:291-8. Review.PMID: 3146328 [PubMed - indexed for MEDLINE]Related articles

Ocular features of the Hagberg-Santavuori syndrome.

Bateman JB, Philippart M.

Am J Ophthalmol. 1986 Aug 15;102(2):262-71.PMID: 3017114 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome. A commonly overlooked progressive encephalopathy in girls.

Al-Mateen M, Philippart M, Shields WD.

Am J Dis Child. 1986 Aug;140(8):761-5.PMID: 3728402 [PubMed - indexed for MEDLINE]Related articles

Biochemical findings after bone marrow transplantation for metachromatic leukodystrophy: a preliminary report.

Ladisch S, Bayever E, Philippart M, Feig SA.

Birth Defects Orig Artic Ser. 1986;22(1):69-76. No abstract available. PMID: 3516243 [PubMed - indexed for MEDLINE]Related articles

Clinical recognition of Rett syndrome.

Philippart M.

Am J Med Genet Suppl. 1986;1:111-8.PMID: 3087171 [PubMed - indexed for MEDLINE]Related articles

Bone-marrow transplantation for metachromatic leucodystrophy.

Bayever E, Ladisch S, Philippart M, Brill N, Nuwer M, Sparkes RS, Feig SA.

Lancet. 1985 Aug 31;2(8453):471-3.PMID: 2863494 [PubMed - indexed for MEDLINE]Related articles

Congenital corneal opacification secondary to Bowman's layer dysgenesis.

Apple DJ, Olson RJ, Jones GR, Carey JC, Van Norman DK, Ohrloff C, Philippart M.

Am J Ophthalmol. 1984 Sep 15;98(3):320-8.PMID: 6476055 [PubMed - indexed for MEDLINE]Related articles

Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.

Bateman JB, Philippart M, Isenberg SJ.

J Pediatr Ophthalmol Strabismus. 1984 Jul-Aug;21(4):133-9.PMID: 6470909 [PubMed - indexed for MEDLINE]Related articles

Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.

Philippart M, Engel J Jr, Zimmerman EG.

Ann Neurol. 1983 Oct;14(4):492-3. No abstract available. PMID: 6314876 [PubMed - indexed for MEDLINE]Related articles

Peripheral hemodynamics in patients with Fabry's disease.

Seino Y, Vyden JK, Philippart M, Rose HB, Nagasawa K.

Am Heart J. 1983 May;105(5):783-7.PMID: 6405603 [PubMed - indexed for MEDLINE]Related articles

Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome.

Philippart M, Durand P, Borrone C.

Pediatr Res. 1982 Nov;16(11):954-9.PMID: 7155665 [PubMed - indexed for MEDLINE]Related articles

Review article: mucolipidosis IV.

Crandall BF, Philippart M, Brown WJ, Bluestone DA.

Am J Med Genet. 1982 Jul;12(3):301-8.PMID: 7114093 [PubMed - indexed for MEDLINE]Related articles

Pathology-Epitomes of Progress: Amniocentesis.

Philippart M.

West J Med. 1982 May;136(5):427-428. No abstract available. PMID: 18749106 [PubMed - as supplied by publisher]Related articlesFree article

Value of C26:O fatty acid determination for the diagnosis of atypical adrenoleukodystrophy.

Philippart M, Nuwer MR, Mortier W, Moser HW.

Ann Neurol. 1982 Jan;11(1):105. No abstract available. PMID: 6277233 [PubMed - indexed for MEDLINE]Related articles

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Lucke S.

Ann Neurol. 1980 Jan;7(1):5-10.PMID: 7362208 [PubMed - indexed for MEDLINE]Related articles

Clinical and biochemical pathophysiology of ataxia in the sphingolipidoses.

Philippart M.

Adv Neurol. 1978;21:131-49. Review.PMID: 104554 [PubMed - indexed for MEDLINE]Related articles

Letter: Implications of cerebroside-beta-galactosidase.

Philippart M.

N Engl J Med. 1976 Jan 22;294(4):225-6. No abstract available. PMID: 1244542 [PubMed - indexed for MEDLINE]Related articles

Chemical induction of lysosomal storage.

Philippart M, Kamensky E.

Adv Exp Med Biol. 1976;68:473-93. No abstract available. PMID: 937116 [PubMed - indexed for MEDLINE]Related articles

Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C.

Callahan JW, Khalil M, Philippart M.

Pediatr Res. 1975 Dec;9(12):908-13.PMID: 172848 [PubMed - indexed for MEDLINE]Related articles

Mannosidosis: findings in cultured fibroblasts and urine.

Vamos-Hurwitz E, Tondeur M, Humbel R, Philippart M, Hösli P, Loeb H.

Acta Paediatr Scand. 1975 Nov;64(6):865-7. No abstract available. PMID: 811081 [PubMed - indexed for MEDLINE]Related articles

Letter: Phenotypic variation in alpha-L-iduronidase deficiency.

Leisti J, Rimoin DL, Kaback MM, Hollister DW, DEn Tandt W, Neufeld E, Matalon R, Philippart M.

Lancet. 1975 Jun 14;1(7920):1344. No abstract available. PMID: 49545 [PubMed - indexed for MEDLINE]Related articles

Phosphodiesterases in human tissues. II. Decreased hydrolysis of synthetic substrate by tissues from patients with the Niemann-Pick syndrome.

Callahan JW, Lassila EL, Philippart M.

Biochem Med. 1974 Nov;11(3):262-74. No abstract available. PMID: 4372995 [PubMed - indexed for MEDLINE]Related articles

Phosphodiesterases in human tissues. I. Identification and separation of enzymes active on bis(p-nitrophenyl)phosphate.

Callahan JW, Lassila EL, Philippart M.

Biochem Med. 1974 Nov;11(3):250-61. No abstract available. PMID: 4372994 [PubMed - indexed for MEDLINE]Related articles

The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions.

Fowler WM Jr, Layzer RB, Taylor RG, Eberle ED, Sims GE, Munsat TL, Philippart M, Wilson BW.

J Neurol Sci. 1974 May;22(1):127-46. No abstract available. PMID: 4830552 [PubMed - indexed for MEDLINE]Related articles

[Juvenile cerebral spongiosis]

Tridon P, Martin JJ, Vidailhet M, Floquet J, Philippart M, Neimann N.

Pediatrie. 1974 Apr-May;29(3):235-47. French. No abstract available. PMID: 4140493 [PubMed - indexed for MEDLINE]Related articles