Electron microscopic features of skin in neurometabolic disorders

[1]  J. Martín,et al.  I-cell disease , 1984, Acta Neuropathologica.

[2]  B. Lake,et al.  Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis). , 1991, The Biochemical journal.

[3]  J. Martín,et al.  Skin biopsy is useful for diagnosis of infantile neuroaxonal dystrophy , 1990, Annals of neurology.

[4]  H. Goebel,et al.  Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: An interim report , 1989, Prenatal diagnosis.

[5]  R. Wanders,et al.  Peroxisomal disorders in neurology , 1988, Journal of the Neurological Sciences.

[6]  J. Martín,et al.  The contribution of pathology to the study of storage disorders. , 1988, Pathology, research and practice.

[7]  R. Highland,et al.  Mitochondrial hydroxyapatite deposits in spinocerebellar degeneration , 1987, Annals of neurology.

[8]  D. Rénier,et al.  Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease , 1987, Annals of neurology.

[9]  N. Yanagisawa,et al.  ULTRASTRUCTURAL FINDINGS OF RECTAL AND SKIN BIOPSIES IN ADULT GM1‐GANGLIOSIDOSIS , 1986, Acta pathologica japonica.

[10]  T. de Barsy,et al.  Acid maltase deficiency in adults. A study of five cases. , 1986, Acta neurologica Belgica.

[11]  J. Martín,et al.  Niemann-Pick disease type C. Skin biopsies in parents. , 1986, Neuropediatrics.

[12]  J. Martín,et al.  Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C) , 1984, Journal of the Neurological Sciences.

[13]  Jean-Jacques Martin,et al.  Diagnostic role of skin or conjunctival biopsies in neurological disorders An update , 1984, Journal of the Neurological Sciences.

[14]  K. Raivio,et al.  Salla disease , 1983, Neurology.

[15]  J. Martín,et al.  Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations. , 1982, Journal of neurology, neurosurgery, and psychiatry.

[16]  F. Guzzetta,et al.  Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life. , 1982, Brain : a journal of neurology.

[17]  A. Dvorak,et al.  Fabry disease , 1982, Neurology.

[18]  H. Goebel,et al.  Morphologic and chemical biopsy findings in mucolipidosis IV. , 1982, Clinical neuropathology.

[19]  G. Takahashi,et al.  Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. , 1981, Neuropediatrics.

[20]  J. Martín,et al.  A family with different clinical forms of acid maltase deficiency (glycogenosis type 11) , 1981, Neurology.

[21]  R. Desnick,et al.  Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia , 1981, Neurology.

[22]  M. Ishii,et al.  Cutaneous ultrastructural diagnosis of ceroid‐lipofuscinosis , 1981, The British journal of dermatology.

[23]  M. Greaves,et al.  Factitious urticaria (dermographism): treatment by cimetidine and chlorpheniramine in a randomized double‐blind study , 1981, The British journal of dermatology.

[24]  J. Aicardi,et al.  An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood , 1981, Annals of neurology.

[25]  J. Martín,et al.  Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency) , 1981, Clinical genetics.

[26]  J. Martín,et al.  Skin and conjunctival nerve biopsies in adrenoleukodystrophy and its variants , 1980, Annals of neurology.

[27]  J. Martín,et al.  Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases. , 1980, Neuropadiatrie.

[28]  M. Jj.  [A new observation of cherry-red spot myoclonus syndrome (author's transl)]. , 1980 .

[29]  J. Martín,et al.  Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers. , 1980, European neurology.

[30]  J. Martín,et al.  Spinocerebellar degeneration , 1979, Neurology.

[31]  J. O'brien,et al.  Uttrastructure of skin biopsy specimens in lysosomal storage diseases: Common sources of error in diagnosis , 1979, Clinical genetics.

[32]  J. Libert,et al.  Diagnostic des maladies lysosomiales de stockage par l'étude de la biopsie conjonctivale en microscopie électronique , 1979 .

[33]  R. Katzman.,et al.  The cherry-red spot--myoclonus syndrome. , 1979, Annals of neurology.

[34]  J. Martín,et al.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system. , 1978, Journal of neurology, neurosurgery, and psychiatry.

[35]  H. Lassmann,et al.  Demonstration of Specific Storage Material within Cutaneous Nerves in Metachromatic Leukodystrophy , 1978, Journal of cutaneous pathology.

[36]  C. L. Dolman,et al.  Fine structure of cutaneous nerves in ganglioside storage disease. , 1977, Journal of neurology, neurosurgery, and psychiatry.

[37]  J. Martín,et al.  Encephalopathy associated with lamellar residual bodies in astrocytes (Towfighi, Grover and Gonatas 1975):a new observation. , 1977, Neuropadiatrie.

[38]  M. Kornfeld,et al.  Fucosidosis with angiokeratoma. Electron microscopic changes in the skin. , 1976, Archives of pathology & laboratory medicine.

[39]  F. Andermann,et al.  The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. , 1977, Brain : a journal of neurology.

[40]  J. Martín,et al.  The Diagnosis of Infantile Generalized Ceroid-Lipofuscinosis (Type Hagberg-Santavuori) Using Skin Biopsy , 1976, Neuropadiatrie.

[41]  Edgar Gw,et al.  [Infantile generalized ceroid-Lipofuscinosis (type Hagberg-Santavuori). A new case and a retrospective study of two observations (author's transl)]. , 1976 .

[42]  N. Gonatas,et al.  Mental retardation, hypotonia, and generalized seizures associated with astrocytic "residual" bodies. An ultrastructural study. , 1975, Human pathology.

[43]  J. O'brien,et al.  Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens , 1975 .

[44]  D. Fontan,et al.  The Diagnosis of Mucopolysaccharidoses by Electron Microscopy of Skin Biopsies , 1975, Journal of cutaneous pathology.

[45]  M. Jj,et al.  Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). , 1974 .

[46]  F. Andermann,et al.  A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. , 1973, Journal of the neurological sciences.

[47]  J. Martín,et al.  Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies. , 1973, European neurology.

[48]  H. Quigley,et al.  The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. , 1972, American journal of ophthalmology.

[49]  F. Andermann,et al.  Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy , 1972, Neurology.

[50]  DeCloux Rj,et al.  Ultrastructural studies of the skin in Hurler's syndrome. , 1969 .

[51]  A. Zelickson.  Ultrastructure of Normal and Abnormal Skin , 1967 .

[52]  J. Thiery.  Mise en evidence des polysaccharides sur coupes fines en microscopie electronique , 1967 .

[53]  V. Ionasescu,et al.  [Genetic neurological diseases]. , 1967, Studii si cercetari de neurologie.