Literature DB >> 11009219

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.

M T Dotti1, A Federico, R Garuti, S Calandra.   

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Year:  2000        PMID： 11009219     DOI： 10.1002/1531-8257(200009)15:5<1017::aid-mds1043>3.0.co;2-f

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  8 in total

Review 1.  Juvenile parkinsonism: epidemiology, diagnosis and treatment.

Authors:  Teri R Thomsen; Robert L Rodnitzky
Journal:  CNS Drugs       Date:  2010-06       Impact factor: 5.749

2.  Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Authors:  M T Dotti; A Rufa; A Federico
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

3.  Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Authors:  Dénes Zádori; László Szpisjak; László Madar; Viktória Evelin Varga; Bernadett Csányi; Krisztina Bencsik; István Balogh; Mariann Harangi; Éva Kereszty; László Vécsei; Péter Klivényi
Journal:  Neurol Sci       Date:  2016-11-25       Impact factor: 3.307

4.  Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

Authors:  A Mignarri; S Rossi; M Ballerini; G N Gallus; M Del Puppo; P Galluzzi; A Federico; M T Dotti
Journal:  J Neurol       Date:  2010-11-21       Impact factor: 4.849

5.  Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.

Authors:  Susan V Smalley; Yudith Preiss; José Suazo; Javier Andrés Vega; Isidora Angellotti; Carlos F Lagos; Enzo Rivera; Karin Kleinsteuber; Javier Campion; J Alfredo Martínez; Alberto Maiz; José Luis Santos
Journal:  Genet Mol Biol       Date:  2014-03-17       Impact factor: 1.771

Review 6.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

Review 7.  Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; J-M Saudubray; E Roze; Y Agid; M Vidailhet
Journal:  J Inherit Metab Dis       Date:  2008-05-30       Impact factor: 4.750

8.  Sterol 27-Hydroxylase Polymorphism Significantly Associates With Shorter Telomere, Higher Cardiovascular and Type-2 Diabetes Risk in Obese Subjects.

Authors:  Sofia Pavanello; Laura Angelici; Mirjam Hoxha; Laura Cantone; Manuela Campisi; Amedea Silvia Tirelli; Luisella Vigna; Angela Cecilia Pesatori; Valentina Bollati
Journal:  Front Endocrinol (Lausanne)       Date:  2018-06-13       Impact factor: 5.555
  8 in total

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