-
1
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
J.E. Wraith, M.R. Baumgartner, and B. Bembi Recommendations on the diagnosis and management of Niemann-Pick disease type C Mol Genet Metab 98 1-2 2009 152 165
-
(2009)
Mol Genet Metab
, vol.98
, Issue.12
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
-
2
-
-
16844362076
-
Troubles psychiatriques révélateurs d'une maladie de Niemann-Pick de type C à l'âge adulte
-
L. Tyvaert, T. Stojkovic, and J.M. Cuisset Troubles psychiatriques révélateurs d'une maladie de Niemann-Pick de type C à l'âge adulte Rev Neurol (Paris) 161 3 2005 318 322
-
(2005)
Rev Neurol (Paris)
, vol.161
, Issue.3
, pp. 318-322
-
-
Tyvaert, L.1
Stojkovic, T.2
Cuisset, J.M.3
-
3
-
-
0028785286
-
Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C
-
L.M. Shulman, N.J. David, and W.J. Weiner Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C Neurology 45 9 1995 1739 1743
-
(1995)
Neurology
, vol.45
, Issue.9
, pp. 1739-1743
-
-
Shulman, L.M.1
David, N.J.2
Weiner, W.J.3
-
5
-
-
0031890087
-
Psychosis as a presentation of physical disease in adolescence: A case of Niemann-Pick disease, type C
-
J.V. Campo, R. Stowe, and G. Slomka Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C Dev Med Child Neurol 40 2 1998 126 129
-
(1998)
Dev Med Child Neurol
, vol.40
, Issue.2
, pp. 126-129
-
-
Campo, J.V.1
Stowe, R.2
Slomka, G.3
-
6
-
-
0242432592
-
Manifestations psychiatriques ou cognitives inaugurales dans les neurolipidoses de l'adulte
-
J.C. Turpin, and N. Baumann Manifestations psychiatriques ou cognitives inaugurales dans les neurolipidoses de l'adulte Rev Neurol (Paris) 159 6-7 Pt. 1 2003 637 647
-
(2003)
Rev Neurol (Paris)
, vol.159
, Issue.6-7 PART 1
, pp. 637-647
-
-
Turpin, J.C.1
Baumann, N.2
-
7
-
-
84862532953
-
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
-
M.C. Patterson, C.J. Hendriksz, and M. Walterfang Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update Mol Genet Metab 106 3 2012 330 344
-
(2012)
Mol Genet Metab
, vol.106
, Issue.3
, pp. 330-344
-
-
Patterson, M.C.1
Hendriksz, C.J.2
Walterfang, M.3
-
8
-
-
77954147835
-
Diagnostic clinique des formes de l'adulte de la maladie de Niemann-Pick de type C
-
F. Sedel Diagnostic clinique des formes de l'adulte de la maladie de Niemann-Pick de type C Arch Pediatr 17 Suppl. 2 2010 S50 S53
-
(2010)
Arch Pediatr
, vol.17
, Issue.SUPPL. 2
-
-
Sedel, F.1
-
9
-
-
84857132924
-
The autosomal recessive cerebellar ataxias
-
M. Anheim, C. Tranchant, and M. Koenig The autosomal recessive cerebellar ataxias N Engl J Med 366 7 2012 636 646
-
(2012)
N Engl J Med
, vol.366
, Issue.7
, pp. 636-646
-
-
Anheim, M.1
Tranchant, C.2
Koenig, M.3
-
10
-
-
33846407579
-
Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations
-
B. Klarner, H.H. Klünemann, and R. Lürding Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations J Inherit Metab Dis 30 1 2007 60 67
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.1
, pp. 60-67
-
-
Klarner, B.1
Klünemann, H.H.2
Lürding, R.3
-
11
-
-
80053326871
-
Pourquoi s'intéresser à la maladie de Niemann-Pick de type C quand on est psychiatre d'enfant et d'adolescent ?
-
10.1016/J.neurenf.2 011.04.004
-
O. Bonnot, A. Leroy, and R. Lucanto Pourquoi s'intéresser à la maladie de Niemann-Pick de type C quand on est psychiatre d'enfant et d'adolescent ? Neuropsychiatr Enfance Adolesc 59 2011 385 391 10.1016/J.neurenf.2 011.04.004
-
(2011)
Neuropsychiatr Enfance Adolesc
, vol.59
, pp. 385-391
-
-
Bonnot, O.1
Leroy, A.2
Lucanto, R.3
-
12
-
-
67650345396
-
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits
-
L.A. Abel, M. Walterfang, and M. Fietz Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits Neurology 72 12 2009 1083 1086
-
(2009)
Neurology
, vol.72
, Issue.12
, pp. 1083-1086
-
-
Abel, L.A.1
Walterfang, M.2
Fietz, M.3
-
13
-
-
33646722321
-
The neuropsychiatry of Niemann-Pick type C disease in adulthood
-
M. Walterfang, M. Fietz, and M. Fahey The neuropsychiatry of Niemann-Pick type C disease in adulthood J Neuropsychiatry Clin Neurosci 18 2 2006 158 170
-
(2006)
J Neuropsychiatry Clin Neurosci
, vol.18
, Issue.2
, pp. 158-170
-
-
Walterfang, M.1
Fietz, M.2
Fahey, M.3
-
14
-
-
33845910402
-
The adultform of Niemann-Pick disease type C
-
M. Sévin, G. Lesca, and N. Baumann The adultform of Niemann-Pick disease type C Brain 130 Pt 1 2007 120 133
-
(2007)
Brain
, vol.130
, Issue.PART 1
, pp. 120-133
-
-
Sévin, M.1
Lesca, G.2
Baumann, N.3
-
15
-
-
77953019480
-
Niemann-Pick disease type C
-
M.T. Vanier Niemann-Pick disease type C Orphanet J Rare Dis 5 2010 16
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
16
-
-
35248858735
-
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
-
F. Sedel, N. Baumann, and J.C. Turpin Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults J Inherit Metab Dis 30 5 2007 631 641
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.5
, pp. 631-641
-
-
Sedel, F.1
Baumann, N.2
Turpin, J.C.3
-
17
-
-
84856255792
-
Psychiatric manifestations of Niemann-Pick disease
-
D. Webber, and H.H. KLünemann Psychiatric manifestations of Niemann-Pick disease J Inherit Metab Dis 4 1 2011 25 31
-
(2011)
J Inherit Metab Dis
, vol.4
, Issue.1
, pp. 25-31
-
-
Webber, D.1
Klünemann, H.H.2
-
18
-
-
1142285590
-
Les formes psychiatriques de la maladie de Niemann-Pick de type C
-
J.C. Turpin, M. Lefèvre, and B. Colsch Les formes psychiatriques de la maladie de Niemann-Pick de type C Ann Med Psychol (Paris) 162 2004 60 63
-
(2004)
Ann Med Psychol (Paris)
, vol.162
, pp. 60-63
-
-
Turpin, J.C.1
Lefèvre, M.2
Colsch, B.3
-
19
-
-
84897928469
-
Post-ictal psychosis in adolescent Niemann-Pick disease type C
-
[Epub ahead of print]
-
M. Walterfang, A. Kornberg, and S. Adams Post-ictal psychosis in adolescent Niemann-Pick disease type C J Inherit Metab Dis 2010 [Epub ahead of print]
-
(2010)
J Inherit Metab Dis
-
-
Walterfang, M.1
Kornberg, A.2
Adams, S.3
-
21
-
-
84880983882
-
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C
-
[Epub ahead of print]
-
M. Walterfang, M. Fietz, and L. Abel Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C J Inherit Metab Dis 32 Suppl 1 2009 S221 S226 [Epub ahead of print]
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.SUPPL. 1
-
-
Walterfang, M.1
Fietz, M.2
Abel, L.3
-
22
-
-
84864920793
-
Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us
-
H.H. Klünemann, P.J. Santosh, and F. Sedel Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us Int J Psychiatry Clin Pract 16 3 2012 162 169
-
(2012)
Int J Psychiatry Clin Pract
, vol.16
, Issue.3
, pp. 162-169
-
-
Klünemann, H.H.1
Santosh, P.J.2
Sedel, F.3
-
23
-
-
84885604121
-
Niemann-Pick disease type C in adulthood-A psychiatric and neurological disorder
-
M. Walterfang, and D. Velakoulis Niemann-Pick disease type C in adulthood-a psychiatric and neurological disorder Eur Psychiatr Rev 3 1 2010 16 20
-
(2010)
Eur Psychiatr Rev
, vol.3
, Issue.1
, pp. 16-20
-
-
Walterfang, M.1
Velakoulis, D.2
-
24
-
-
84857511043
-
Niemann-Pick disease type C-example of an inborn error of metabolism producing psychiatric manifestations
-
O. Bonnot Niemann-Pick disease type C-example of an inborn error of metabolism producing psychiatric manifestations Eur Psychiatr Rev 4 2 2011 84 88
-
(2011)
Eur Psychiatr Rev
, vol.4
, Issue.2
, pp. 84-88
-
-
Bonnot, O.1
-
25
-
-
82655181800
-
La maladie de Niemann-Pick de type C
-
C. Tranchant La maladie de Niemann-Pick de type C Prat Neurol 2 2011 229 236
-
(2011)
Prat Neurol
, vol.2
, pp. 229-236
-
-
Tranchant, C.1
-
26
-
-
68849083222
-
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male
-
S. Sandu, S. Jackowski-Dohrmann, and A. Ladner Niemann-Pick disease type C1 presenting with psychosis in an adolescent male Eur Child Adolesc Psychiatry 18 9 2009 583 585
-
(2009)
Eur Child Adolesc Psychiatry
, vol.18
, Issue.9
, pp. 583-585
-
-
Sandu, S.1
Jackowski-Dohrmann, S.2
Ladner, A.3
-
27
-
-
0028246596
-
Clinical features of Niemann-Pick disease type C: An example of the delayed onset, slowly progressive phenotype and an overview of recent literature
-
C.J. Van de Vlasakker, F.J. Gabreëls, and H.C. Wijburg Clinical features of Niemann-Pick disease type C: an example of the delayed onset, slowly progressive phenotype and an overview of recent literature Clin Neurol Neurosurg 96 2 1994 119 123
-
(1994)
Clin Neurol Neurosurg
, vol.96
, Issue.2
, pp. 119-123
-
-
Van De Vlasakker, C.J.1
Gabreëls, F.J.2
Wijburg, H.C.3
-
28
-
-
0026409455
-
Clinical aspects of Niemann-Pick type C disease in the adult
-
[Review]
-
J.C. Turpin, M. Masson, and N. Baumann Clinical aspects of Niemann-Pick type C disease in the adult Dev Neurosci 13 4-5 1991 304 306 [Review]
-
(1991)
Dev Neurosci
, vol.13
, Issue.45
, pp. 304-306
-
-
Turpin, J.C.1
Masson, M.2
Baumann, N.3
-
29
-
-
0032892536
-
Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature
-
M.T. Vanier Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature Neurochem Res 24 4 1999 481 489
-
(1999)
Neurochem Res
, vol.24
, Issue.4
, pp. 481-489
-
-
Vanier, M.T.1
-
30
-
-
58149308844
-
Altered lipid metabolism in brain injury and disorders
-
[Review]
-
R.M. Adibhatla, and J.F. Hatcher Altered lipid metabolism in brain injury and disorders Subcell Biochem 49 2008 241 268 [Review]
-
(2008)
Subcell Biochem
, vol.49
, pp. 241-268
-
-
Adibhatla, R.M.1
Hatcher, J.F.2
-
31
-
-
34547753513
-
Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
-
M.C. Patterson, D. Vecchio, and H. Prady Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study Lancet Neurol 6 9 2007 765 772
-
(2007)
Lancet Neurol
, vol.6
, Issue.9
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
-
32
-
-
70349748397
-
Miglustat in patients with Niemann-Pick disease type C (NP-C): A multicenter observational retrospective cohort study
-
M. Pineda, J.E. Wraith, and E. Mengel Miglustat in patients with Niemann-Pick disease type C (NP-C): a multicenter observational retrospective cohort study Mol Genet Metab 98 3 2009 243 249
-
(2009)
Mol Genet Metab
, vol.98
, Issue.3
, pp. 243-249
-
-
Pineda, M.1
Wraith, J.E.2
Mengel, E.3
|