-
1
-
-
77953019480
-
Niemann-Pick disease type C
-
PID: 20525256, A review summarizing the author´s lifetime experience devoted to clinical picture, etiology, diagnosis, differential diagnosis, management and prognosis of NP-C
-
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16. A review summarizing the author´s lifetime experience devoted to clinical picture, etiology, diagnosis, differential diagnosis, management and prognosis of NP-C.
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
2
-
-
84876849121
-
Niemann-Pick diseases
-
PID: 23622394, A review illustrating clinical differences, etiology, genetic and biochemical examinations, and treatment possibilities of the whole Niemann-Pick disease groups, particularly type B and C
-
Vanier MT. Niemann-Pick diseases. Handb Clin Neurol. 2013;113:1717–21. A review illustrating clinical differences, etiology, genetic and biochemical examinations, and treatment possibilities of the whole Niemann-Pick disease groups, particularly type B and C.
-
(2013)
Handb Clin Neurol
, vol.113
, pp. 1717-1721
-
-
Vanier, M.T.1
-
3
-
-
84862532953
-
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
-
COI: 1:CAS:528:DC%2BC38Xmslylsr4%3D, PID: 22572546, The authors report points of consensus among experts in the diagnosis and treatment of NP-C. The article serves as an update to the original guidelines providing further information on detection, diagnostic methods, monitoring disease progression, and therapy
-
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44. The authors report points of consensus among experts in the diagnosis and treatment of NP-C. The article serves as an update to the original guidelines providing further information on detection, diagnostic methods, monitoring disease progression, and therapy.
-
(2012)
Mol Genet Metab
, vol.106
, pp. 330-344
-
-
Patterson, M.C.1
Hendriksz, C.J.2
Walterfang, M.3
Sedel, F.4
Vanier, M.T.5
Wijburg, F.6
-
4
-
-
0141886877
-
Niemann-Pick disease type C
-
COI: 1:STN:280:DC%2BD3svos1ektw%3D%3D, PID: 12974729
-
Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64:269–81.
-
(2003)
Clin Genet
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
5
-
-
34547753513
-
Miglustat for treatment of Niemann-Pick C disease: a randomized controlled study
-
COI: 1:CAS:528:DC%2BD2sXhtVyrsr3F, PID: 17689147
-
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomized controlled study. Lancet Neurol. 2007;6:765–72.
-
(2007)
Lancet Neurol
, vol.6
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
Abel, L.4
Wraith, J.E.5
-
6
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
PID: 17003072, The most extensive study of adults with NP-C improving the knowledge of cognitive/psychiatric stages of the disease before the occurrence of classical neurological lesions
-
Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–33. The most extensive study of adults with NP-C improving the knowledge of cognitive/psychiatric stages of the disease before the occurrence of classical neurological lesions.
-
(2007)
Brain
, vol.130
, pp. 120-133
-
-
Sevin, M.1
Lesca, G.2
Baumann, N.3
Millat, G.4
Lyon-Caen, O.5
Vanier, M.T.6
-
7
-
-
0028566323
-
Narcolepsy in children
-
COI: 1:STN:280:DyaK2M3hsFOisw%3D%3D, PID: 7701194
-
Challamel MJ, Mazzola ME, Nevšímalová S, Cannard C, Louis J, Revo S, et al. Narcolepsy in children. Sleep. 1994;17 Suppl 8:S17–20.
-
(1994)
Sleep
, vol.17
, pp. S17-S20
-
-
Challamel, M.J.1
Mazzola, M.E.2
Nevšímalová, S.3
Cannard, C.4
Louis, J.5
Revo, S.6
-
8
-
-
84905081455
-
Genetic disorders and sleepiness
-
Thorpy MJ, Billiard M, (eds), Cambridge University Press, New York:
-
Nevsimalova S. Genetic disorders and sleepiness. In: Thorpy MJ, Billiard M, editors. Sleepiness—causes, consequences and symptoms. New York: Cambridge University Press; 2011. p. 335–50.
-
(2011)
Sleepiness—causes, consequences and symptoms
, pp. 335-350
-
-
Nevsimalova, S.1
-
9
-
-
84886672179
-
Niemann-Pick disease type C symptomatology: an expert-based clinical description
-
PID: 24135395, A review summarizes NP-C signs and symptoms and, particularly, their combinations. NP-C Suspicion Index Tool is highly predictive for the diagnosis
-
Mengel E, Klunemann HH, Lourenco CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166. A review summarizes NP-C signs and symptoms and, particularly, their combinations. NP-C Suspicion Index Tool is highly predictive for the diagnosis.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 166
-
-
Mengel, E.1
Klunemann, H.H.2
Lourenco, C.M.3
Hendriksz, C.J.4
Sedel, F.5
Walterfang, M.6
-
10
-
-
33748714980
-
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis in children with Gaucher disease and Niemann-Pick disease type A/B and C
-
COI: 1:CAS:528:DC%2BD28XpsFWlsLk%3D, PID: 16972172
-
Ries M, Schaefer E, Luhrs T, Mani L, Kuhn J, Vanier MT, et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis in children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis. 2006;29:647–52.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 647-652
-
-
Ries, M.1
Schaefer, E.2
Luhrs, T.3
Mani, L.4
Kuhn, J.5
Vanier, M.T.6
-
11
-
-
0025777970
-
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
COI: 1:CAS:528:DyaK3MXksVOhtbk%3D, PID: 2065104
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge MC, et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta. 1991;1096:328–37.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Gazzah, N.4
Juge, M.C.5
-
12
-
-
4744339285
-
Therapy of Niemann-Pick disease, type C
-
COI: 1:CAS:528:DC%2BD2cXotFCktr8%3D, PID: 15465428
-
Patterson MC, Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta. 2004;1685:77–82.
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 77-82
-
-
Patterson, M.C.1
Platt, F.2
-
13
-
-
77949469173
-
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
-
COI: 1:CAS:528:DC%2BD1MXhsVKlt7bM, PID: 19956552, Findings demonstrate clinically relevant beneficial effects of miglustat on neurological disease progression in adult, juvenile, and pediatric patients with NP-C, particularly those diagnosed in late childhood (6–11 years) and juveniles and adults (12 years and older,) compared with those diagnosed in early childhood (younger than 6 years)
-
Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag. 2009;5:877–87. Findings demonstrate clinically relevant beneficial effects of miglustat on neurological disease progression in adult, juvenile, and pediatric patients with NP-C, particularly those diagnosed in late childhood (6–11 years) and juveniles and adults (12 years and older,) compared with those diagnosed in early childhood (younger than 6 years).
-
(2009)
Ther Clin Risk Manag
, vol.5
, pp. 877-887
-
-
Wraith, J.E.1
Imrie, J.2
-
14
-
-
73949159934
-
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C
-
PID: 19415691
-
Yanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, et al. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:132–40.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153B
, pp. 132-140
-
-
Yanjanin, N.M.1
Velez, J.I.2
Gropman, A.3
King, K.4
Bianconi, S.E.5
Conley, S.K.6
-
15
-
-
0023879638
-
Niemann-Pick disease group C: clinical variability and diagnostic based on defective cholesterol esterification. A collaborative study on 70 patients
-
COI: 1:STN:280:DyaL1c3ktF2ksw%3D%3D, PID: 3378364
-
Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pontchev PG. Niemann-Pick disease group C: clinical variability and diagnostic based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet. 1988;33:331–48.
-
(1988)
Clin Genet
, vol.33
, pp. 331-348
-
-
Vanier, M.T.1
Wenger, D.A.2
Comly, M.E.3
Rousson, R.4
Brady, R.O.5
Pontchev, P.G.6
-
16
-
-
84883500577
-
Vertical supranuclear gaze palsy in Niemann-Pick type C disease
-
PID: 22810120, Vertical supranuclear gaze palsy (VSGP)—as a typical clinical feature in patients with Niemann-Pick type C disease—is present in approximately 65 % of the cases. Together with gelastic cataplexy is an important risk indicator of the disease
-
Salsano E, Umeh C, Rufa A, Pareyson D, Zee DS. Vertical supranuclear gaze palsy in Niemann-Pick type C disease. Neurol Sci. 2012;33:1225–32. Vertical supranuclear gaze palsy (VSGP)—as a typical clinical feature in patients with Niemann-Pick type C disease—is present in approximately 65 % of the cases. Together with gelastic cataplexy is an important risk indicator of the disease.
-
(2012)
Neurol Sci
, vol.33
, pp. 1225-1232
-
-
Salsano, E.1
Umeh, C.2
Rufa, A.3
Pareyson, D.4
Zee, D.S.5
-
17
-
-
67849098806
-
Recommendation on the diagnosis and management of Niemann-Pick disease type C
-
COI: 1:CAS:528:DC%2BD1MXptlWktbk%3D, PID: 19647672, Expert panel presents key aspects of the clinical management of the disease in children, juveniles and adults, and provides recommendations based on consensus between those experts
-
Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. Recommendation on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152–65. Expert panel presents key aspects of the clinical management of the disease in children, juveniles and adults, and provides recommendations based on consensus between those experts.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
Covanis, A.4
Levade, T.5
Mengel, E.6
-
18
-
-
0028785286
-
Psychosis as the initial manifestation of adult onset Niemann-Pick disease type C
-
COI: 1:STN:280:DyaK2MvgsFKgtQ%3D%3D, PID: 7675237
-
Shulman LM, Davin NJ, Weiner WJ. Psychosis as the initial manifestation of adult onset Niemann-Pick disease type C. Neurology. 1995;45:1739–43.
-
(1995)
Neurology
, vol.45
, pp. 1739-1743
-
-
Shulman, L.M.1
Davin, N.J.2
Weiner, W.J.3
-
19
-
-
0036822859
-
Niemann-Pick disease type C in adults
-
COI: 1:CAS:528:DC%2BD38XptFejtro%3D
-
Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinsstall L, Church H, et al. Niemann-Pick disease type C in adults. Inherit Metab Dis. 2002;25:491–500.
-
(2002)
Inherit Metab Dis
, vol.25
, pp. 491-500
-
-
Imrie, J.1
Vijayaraghaven, S.2
Whitehouse, C.3
Harris, S.4
Heptinsstall, L.5
Church, H.6
-
20
-
-
33646722321
-
The neuropsychiatry of Niemann-Pick type C disease in adulthood
-
Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. Neuropsychiatry Clin Neurosci. 2006;18:158–70.
-
(2006)
Neuropsychiatry Clin Neurosci
, vol.18
, pp. 158-170
-
-
Walterfang, M.1
Fietz, M.2
Fahey, M.3
Sullivan, D.4
Leane, P.5
Lubman, D.I.6
-
22
-
-
84914112299
-
-
American Academy of Sleep Medicine. International Classification of Sleep Disorders, 3rd ed. Darien, Illinois: American Academy of Sleep Medicine 2014. The new classification distinguishes between two basic forms of narcolepsy—narcolepsy type 1 (with hypocretin-1 deficiency) and narcolepsy type 2 (without hypocretin-1 deficiency)
-
American Academy of Sleep Medicine. International Classification of Sleep Disorders, 3rd ed. Darien, Illinois: American Academy of Sleep Medicine 2014. The new classification distinguishes between two basic forms of narcolepsy—narcolepsy type 1 (with hypocretin-1 deficiency) and narcolepsy type 2 (without hypocretin-1 deficiency).
-
-
-
-
23
-
-
48649083175
-
Cataplexy features in childhood narcolepsy
-
Serra L, Montagna P, Mignot E, Lugaresi E, Plazzi G. Cataplexy features in childhood narcolepsy. Mov Dis. 2008;23:858–65.
-
(2008)
Mov Dis
, vol.23
, pp. 858-865
-
-
Serra, L.1
Montagna, P.2
Mignot, E.3
Lugaresi, E.4
Plazzi, G.5
-
24
-
-
84902714424
-
The diagnosis and treatment of pediatric narcolepsy
-
PID: 24954623
-
Nevsimalova S. The diagnosis and treatment of pediatric narcolepsy. Curr Neurol Neurosci Rep. 2014;14:469–79.
-
(2014)
Curr Neurol Neurosci Rep
, vol.14
, pp. 469-479
-
-
Nevsimalova, S.1
-
25
-
-
0036791834
-
The role of cerebrospinal fluid hypocretin in the diagnosis of narcolepsy and other hypersomnias
-
PID: 12374492
-
Mignot E, Lammers GJ, Ripley B, Okun M, Nevsimalova S, Overeem S, et al. The role of cerebrospinal fluid hypocretin in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol. 2002;59:1553–62.
-
(2002)
Arch Neurol
, vol.59
, pp. 1553-1562
-
-
Mignot, E.1
Lammers, G.J.2
Ripley, B.3
Okun, M.4
Nevsimalova, S.5
Overeem, S.6
-
26
-
-
22144491932
-
Symptomatic narcolepsy, cataplexy and hypersomnia, and their implication in the hypothalamic hypocretin/orexin system
-
PID: 16006155, A survey of secondary (symptomatic) cases of narcolepsy as well as isolated cataplexy in children and adults reviewed in the literature
-
Nishino S, Kanbayashi T. Symptomatic narcolepsy, cataplexy and hypersomnia, and their implication in the hypothalamic hypocretin/orexin system. Sleep Med Rev. 2005;9:269–310. A survey of secondary (symptomatic) cases of narcolepsy as well as isolated cataplexy in children and adults reviewed in the literature.
-
(2005)
Sleep Med Rev
, vol.9
, pp. 269-310
-
-
Nishino, S.1
Kanbayashi, T.2
-
27
-
-
0019945125
-
Cataplexy in variant forms of Niemann Pick disease
-
COI: 1:STN:280:DyaL3s%2FkslSgtw%3D%3D, PID: 7137965
-
Kandt RS, Emerson RG, Singer HS, Valle DL, Moser HW. Cataplexy in variant forms of Niemann Pick disease. Ann Neurol. 1982;12:284–8.
-
(1982)
Ann Neurol
, vol.12
, pp. 284-288
-
-
Kandt, R.S.1
Emerson, R.G.2
Singer, H.S.3
Valle, D.L.4
Moser, H.W.5
-
28
-
-
33745279081
-
Cataplexy leading to the diagnosis of Niemann-Pick disease type C
-
Smit LS, Lammers GJ, Castman-Berrevoets CE. Cataplexy leading to the diagnosis of Niemann-Pick disease type C. Ped Neurol. 2006;35:82–4.
-
(2006)
Ped Neurol
, vol.35
, pp. 82-84
-
-
Smit, L.S.1
Lammers, G.J.2
Castman-Berrevoets, C.E.3
-
29
-
-
84871321518
-
Teaching video neuroimages: gelastic cataplexy as the firs neurologic manifestation of Niemann-Pick disease type C
-
Pedroso JL, Fusao EF, Ladeia-Frota C, Arita JH, Barsottini OG, Masruha MR, Pereira LC. Teaching video neuroimages: gelastic cataplexy as the firs neurologic manifestation of Niemann-Pick disease type C. In: MSV Elkind (ed). Resident and fellow section, American Academy of Neurology 2012, e189.
-
(2012)
Resident and fellow section, American Academy of Neurology
, pp. e189
-
-
Pedroso, J.L.1
Fusao, E.F.2
Ladeia-Frota, C.3
Arita, J.H.4
Barsottini, O.G.5
Masruha, M.R.6
Pereira, L.C.7
Elkind, M.S.V.8
-
30
-
-
0037315232
-
Hypocretin deficiency in Niemann-Pick type C with cataplexy
-
COI: 1:STN:280:DC%2BD3s7ntFemsg%3D%3D
-
Kanbayashi T, Abe M, Fujimoto S, Miyachi T, Takahashi T, Yano T, et al. Hypocretin deficiency in Niemann-Pick type C with cataplexy. Neuropediatr. 2003;34:52–3.
-
(2003)
Neuropediatr
, vol.34
, pp. 52-53
-
-
Kanbayashi, T.1
Abe, M.2
Fujimoto, S.3
Miyachi, T.4
Takahashi, T.5
Yano, T.6
-
31
-
-
33745195994
-
Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid
-
PID: 16778374
-
Oyama K, Takahashi T, Shoji Y, Oyamada M, Noguchi A, Tamura H, et al. Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med. 2006;209:263–7.
-
(2006)
Tohoku J Exp Med
, vol.209
, pp. 263-267
-
-
Oyama, K.1
Takahashi, T.2
Shoji, Y.3
Oyamada, M.4
Noguchi, A.5
Tamura, H.6
-
32
-
-
0142150975
-
Sleep disturbance and hypocretin deficiency in Niemann-Pick disease type C
-
PID: 12841368, One of the first articles presents hypocretin deficiency in NP-C patients. All patients underwent nocturnal polysomnography and multiple sleep latency test (MSLT). Changes of sleep architecture (including sleep microstructure) were found, and majority of the patients demonstrated shortened mean sleep latency in MSLT
-
Vankova J, Stepanova I, Jech R, Elleder M, Lin L, Mignot E, et al. Sleep disturbance and hypocretin deficiency in Niemann-Pick disease type C. Sleep. 2003;26:427–30. One of the first articles presents hypocretin deficiency in NP-C patients. All patients underwent nocturnal polysomnography and multiple sleep latency test (MSLT). Changes of sleep architecture (including sleep microstructure) were found, and majority of the patients demonstrated shortened mean sleep latency in MSLT.
-
(2003)
Sleep
, vol.26
, pp. 427-430
-
-
Vankova, J.1
Stepanova, I.2
Jech, R.3
Elleder, M.4
Lin, L.5
Mignot, E.6
-
33
-
-
0023277036
-
Guidelines for the Multiple Sleep Latency Test (MSLT): a standard measure of sleepiness
-
COI: 1:STN:280:DyaL2s7hvFKruw%3D%3D, PID: 3809866
-
Carskadon MA, Dement WC, Mitler M, Roth T, Westbrook P, Keenan S. Guidelines for the Multiple Sleep Latency Test (MSLT): a standard measure of sleepiness. Sleep. 1986;9:519–24.
-
(1986)
Sleep
, vol.9
, pp. 519-524
-
-
Carskadon, M.A.1
Dement, W.C.2
Mitler, M.3
Roth, T.4
Westbrook, P.5
Keenan, S.6
-
34
-
-
78651347457
-
Treatment of cataplexy in Niemann-Pick disease type C
-
Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlasakova H, Kothare SJ. Treatment of cataplexy in Niemann-Pick disease type C. Eur J Paed Neurol. 2011;15:84–7.
-
(2011)
Eur J Paed Neurol
, vol.15
, pp. 84-87
-
-
Zarowski, M.1
Steinborn, B.2
Gurda, B.3
Dvorakova, L.4
Vlasakova, H.5
Kothare, S.J.6
-
35
-
-
70349785493
-
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil
-
PID: 18937049
-
Santos MLF, Raskin S, Telles DS, Lohr Jr A, Liberalesso PBN, Vieira SC, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis. 2008;31 Suppl 2:S357–61.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. S357-S361
-
-
Santos, M.L.F.1
Raskin, S.2
Telles, D.S.3
Lohr, A.4
Liberalesso, P.B.N.5
Vieira, S.C.6
-
36
-
-
0019475429
-
Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies
-
COI: 1:STN:280:DyaL3M3mtVyhsQ%3D%3D, PID: 7262098
-
Gilbert EF, Callahan J, Viseskul C, Opitz JM. Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies. Eur J Pediatr. 1981;136:263–74.
-
(1981)
Eur J Pediatr
, vol.136
, pp. 263-274
-
-
Gilbert, E.F.1
Callahan, J.2
Viseskul, C.3
Opitz, J.M.4
-
37
-
-
77954650422
-
White and gray matter alteration in adults with Niemann-Pick disease type C
-
COI: 1:STN:280:DC%2BC3cnkslersw%3D%3D, PID: 20484681
-
Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, et al. White and gray matter alteration in adults with Niemann-Pick disease type C. Neurology. 2010;75:49–56.
-
(2010)
Neurology
, vol.75
, pp. 49-56
-
-
Walterfang, M.1
Fahey, M.2
Desmond, P.3
Wood, A.4
Seal, M.L.5
Steward, C.6
-
38
-
-
84880805275
-
Subcortical volumetric reduction in adult Niemann-Pick disease type C: a cross-sectional study
-
COI: 1:STN:280:DC%2BC3s3hslKqtg%3D%3D, PID: 23237858
-
Walterfang M, Patenaude B, Abel LA, Klunemann H, Bowman EA, Fahey MC, et al. Subcortical volumetric reduction in adult Niemann-Pick disease type C: a cross-sectional study. AJNR Am J Neuroradiol. 2013;34:1334–40.
-
(2013)
AJNR Am J Neuroradiol
, vol.34
, pp. 1334-1340
-
-
Walterfang, M.1
Patenaude, B.2
Abel, L.A.3
Klunemann, H.4
Bowman, E.A.5
Fahey, M.C.6
-
39
-
-
40849118253
-
Brainstem neuropathology
-
COI: 1:CAS:528:DC%2BD1cXjs1Wgtbk%3D, PID: 18190929, The neuropathological changes observed in the brainstem of NPC1−/− mice are largely compatible with the clinical symptoms (including cataplexy) and reported neuropathology in Niemann-Pick type C patients
-
Luan Z, Saito Y, Miyata H, Ohama E, Ninomiya H, Ohno K. Brainstem neuropathology. J Neurol Sci. 2008;268:108–16. The neuropathological changes observed in the brainstem of NPC1−/− mice are largely compatible with the clinical symptoms (including cataplexy) and reported neuropathology in Niemann-Pick type C patients.
-
(2008)
J Neurol Sci
, vol.268
, pp. 108-116
-
-
Luan, Z.1
Saito, Y.2
Miyata, H.3
Ohama, E.4
Ninomiya, H.5
Ohno, K.6
-
40
-
-
0032951843
-
Locus coeruleus neurons: cessation of activity during cataplexy
-
COI: 1:CAS:528:DyaK1MXjsV2jur8%3D, PID: 10391445
-
Wu MF, Gulyani SA, Yau E, Mignot E, Phan B, Siegel JM. Locus coeruleus neurons: cessation of activity during cataplexy. Neuroscience. 1999;91:1389–99.
-
(1999)
Neuroscience
, vol.91
, pp. 1389-1399
-
-
Wu, M.F.1
Gulyani, S.A.2
Yau, E.3
Mignot, E.4
Phan, B.5
Siegel, J.M.6
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