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Human Genetics
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March 8, 2006
Gene symbol: NOTCH3. Disease: CADASIL
S Bianchi, O Scali, M T Dotti, et al.
Journal of the Neurological Sciences
|
August 1, 1997
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?
A Federico, K Plewnia, C Battisti, et al.
Journal of Lipid Research
|
December 10, 1997
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis
R Garuti, M A Croce, R Tiozzo, et al.
Journal of Neurology
|
July 5, 2001
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
N De Stefano, P Balestri, M T Dotti, et al.
Journal of Submicroscopic Cytology and Pathology
|
August 18, 2004
Mitochondrial alterations in muscle biopsies of patients on statin therapy
S Gambelli, M T Dotti, A Malandrini, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy
A Federico, L Manneschi, M Meloni, et al.
European Neurology
|
January 1, 1985
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study
M T Dotti, A Rossi, N Rizzuto, et al.
AJNR. American Journal of Neuroradiology
|
October 1, 1994
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings
M T Dotti, A Federico, E Signorini, et al.
Acta Neurologica
|
August 1, 1990
Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti
A Federico, G M Fabrizi, M T Dotti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 5, 2000
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
M T Dotti, C Battisti, A Malandrini, et al.
Page
of 15
Search research articles
Search
Showing results (71-80 of 144) with videos related to
Sort By:
Page
of 15
Human Genetics
|
March 8, 2006
Gene symbol: NOTCH3. Disease: CADASIL
S Bianchi, O Scali, M T Dotti, et al.
Journal of the Neurological Sciences
|
August 1, 1997
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?
A Federico, K Plewnia, C Battisti, et al.
Journal of Lipid Research
|
December 10, 1997
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis
R Garuti, M A Croce, R Tiozzo, et al.
Journal of Neurology
|
July 5, 2001
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
N De Stefano, P Balestri, M T Dotti, et al.
Journal of Submicroscopic Cytology and Pathology
|
August 18, 2004
Mitochondrial alterations in muscle biopsies of patients on statin therapy
S Gambelli, M T Dotti, A Malandrini, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy
A Federico, L Manneschi, M Meloni, et al.
European Neurology
|
January 1, 1985
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study
M T Dotti, A Rossi, N Rizzuto, et al.
AJNR. American Journal of Neuroradiology
|
October 1, 1994
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings
M T Dotti, A Federico, E Signorini, et al.
Acta Neurologica
|
August 1, 1990
Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti
A Federico, G M Fabrizi, M T Dotti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 5, 2000
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
M T Dotti, C Battisti, A Malandrini, et al.
Page
of 15