-
1
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
A.E. Harding Classification of the hereditary ataxias and paraplegias Lancet 1 1983 1151 1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
2
-
-
84861618858
-
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
-
J. Finsterer, W. Löscher, and S. Quasthoff et al. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance J Neurol Sci 318 2012 1 18
-
(2012)
J Neurol Sci
, vol.318
, pp. 1-18
-
-
Finsterer, J.1
Löscher, W.2
Quasthoff, S.3
-
3
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
S. Hadano, C.K. Hand, and H. Osuga et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 Nat Genet 29 2 2001 166 173
-
(2001)
Nat Genet
, vol.29
, Issue.2
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
-
4
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Y. Yang, A. Hentati, and H.X. Deng et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis Nat Genet 29 2 2001 160 165
-
(2001)
Nat Genet
, vol.29
, Issue.2
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
-
5
-
-
0036724052
-
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
-
E. Eymard-Pierre, G. Lesca, and S. Dollet et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene Am J Hum Genet 71 2002 518 527
-
(2002)
Am J Hum Genet
, vol.71
, pp. 518-527
-
-
Eymard-Pierre, E.1
Lesca, G.2
Dollet, S.3
-
6
-
-
0037465372
-
Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families
-
G. Lesca, E. Eymard-Pierre, and F.M. Santorelli et al. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families Neurology 60 2003 674 682
-
(2003)
Neurology
, vol.60
, pp. 674-682
-
-
Lesca, G.1
Eymard-Pierre, E.2
Santorelli, F.M.3
-
7
-
-
33745713871
-
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
-
C. Panzeri, C. De Palma, and A. Martinuzzi et al. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function Brain 129 Pt 7 2006 1710 1719
-
(2006)
Brain
, vol.129
, Issue.PART 7
, pp. 1710-1719
-
-
Panzeri, C.1
De Palma, C.2
Martinuzzi, A.3
-
8
-
-
0023910471
-
Chronic progressive spinobulbar spasticity. A rare form of primary lateral sclerosis
-
J.L. Gastaut, B. Michel, and D. Figarella-Branger et al. Chronic progressive spinobulbar spasticity. A rare form of primary lateral sclerosis Arch Neurol 45 5 1988 509 513
-
(1988)
Arch Neurol
, vol.45
, Issue.5
, pp. 509-513
-
-
Gastaut, J.L.1
Michel, B.2
Figarella-Branger, D.3
-
9
-
-
0030019925
-
Infantile onset of hereditary ascending spastic paralysis with bulbar involvement
-
T. Lerman-Sagie, J. Filiano, and D.W. Smith et al. Infantile onset of hereditary ascending spastic paralysis with bulbar involvement J Child Neurol 11 1 1996 54 57
-
(1996)
J Child Neurol
, vol.11
, Issue.1
, pp. 54-57
-
-
Lerman-Sagie, T.1
Filiano, J.2
Smith, D.W.3
-
10
-
-
0028891994
-
Familial childhood primary lateral sclerosis with associated gaze paresis
-
G.G. Gascon, P. Chavis, and A. Yaghmour et al. Familial childhood primary lateral sclerosis with associated gaze paresis Neuropediatrics 26 6 1995 313 319
-
(1995)
Neuropediatrics
, vol.26
, Issue.6
, pp. 313-319
-
-
Gascon, G.G.1
Chavis, P.2
Yaghmour, A.3
-
11
-
-
0037234133
-
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
-
F. Gros-Louis, I.A. Meijer, and C.K. Hand et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred Ann Neurol 53 1 2003 144 145
-
(2003)
Ann Neurol
, vol.53
, Issue.1
, pp. 144-145
-
-
Gros-Louis, F.1
Meijer, I.A.2
Hand, C.K.3
-
12
-
-
0042914405
-
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
-
R.S. Devon, J.R. Helm, and G.A. Rouleau et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings Clin Genet 64 3 2003 210 215
-
(2003)
Clin Genet
, vol.64
, Issue.3
, pp. 210-215
-
-
Devon, R.S.1
Helm, J.R.2
Rouleau, G.A.3
-
13
-
-
33744816471
-
Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
-
E. Eymard-Pierre, K. Yamanaka, and M. Haeussler et al. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis Ann Neurol 59 6 2006 976 980
-
(2006)
Ann Neurol
, vol.59
, Issue.6
, pp. 976-980
-
-
Eymard-Pierre, E.1
Yamanaka, K.2
Haeussler, M.3
-
14
-
-
54549100254
-
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: The first cases from northwestern Europe
-
C.C. Verschuuren-Bemelmans, P. Winter, and Sival et al. Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe Eur J Hum Genet 16 11 2008 1407 1411
-
(2008)
Eur J Hum Genet
, vol.16
, Issue.11
, pp. 1407-1411
-
-
Verschuuren-Bemelmans, C.C.1
Winter, P.2
Sival3
-
15
-
-
43449124426
-
First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement
-
L. Sztriha, C. Panzeri, and R. Kálmánchey et al. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement Clin Genet 73 6 2008 591 593
-
(2008)
Clin Genet
, vol.73
, Issue.6
, pp. 591-593
-
-
Sztriha, L.1
Panzeri, C.2
Kálmánchey, R.3
-
16
-
-
58649114971
-
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
-
T. Herzfeld, N. Wolf, and P. Winter et al. Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP) Neurogenetics 10 1 2009 59 64
-
(2009)
Neurogenetics
, vol.10
, Issue.1
, pp. 59-64
-
-
Herzfeld, T.1
Wolf, N.2
Winter, P.3
-
17
-
-
63849183994
-
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family
-
N. Mintchev, E. Zamba-Papanicolaou, and K.A. Kleopa et al. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family Neurology 72 1 2009 28 32
-
(2009)
Neurology
, vol.72
, Issue.1
, pp. 28-32
-
-
Mintchev, N.1
Zamba-Papanicolaou, E.2
Kleopa, K.A.3
-
18
-
-
84901038693
-
-
GeneReviews™ [Internet] University of Washington Seattle (WA) [updated 2013 Apr 18]
-
E.S. Bertini, E. Eymard-Pierre, and O. Boespflug-Tanguy et al. ALS2-related disorders GeneReviews™ [Internet] 2005 Oct 21 University of Washington Seattle (WA) 1993 2013 [updated 2013 Apr 18]
-
(2005)
ALS2-related Disorders
, pp. 1993-2013
-
-
Bertini, E.S.1
Eymard-Pierre, E.2
Boespflug-Tanguy, O.3
-
19
-
-
34547421785
-
Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration
-
S. Hadano, R. Kunita, and A. Otomo et al. Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration Neurochem Int 51 2-4 2007 74 84
-
(2007)
Neurochem Int
, vol.51
, Issue.24
, pp. 74-84
-
-
Hadano, S.1
Kunita, R.2
Otomo, A.3
-
20
-
-
70350075024
-
Genetics of motor neuron disorders: New insights into pathogenic mechanisms
-
P.A. Dion, H. Daoud, and G.A. Rouleau Genetics of motor neuron disorders: new insights into pathogenic mechanisms Nat Rev Genet 10 11 2009 769 782
-
(2009)
Nat Rev Genet
, vol.10
, Issue.11
, pp. 769-782
-
-
Dion, P.A.1
Daoud, H.2
Rouleau, G.A.3
-
21
-
-
80053308618
-
Alfa-class prefoldin protein UXT is a novel interacting partner of amyotrophic lateral sclerosis 2 (Als2) protein
-
I. Enunlu, M. Ozansoy, and A.N. Basak Alfa-class prefoldin protein UXT is a novel interacting partner of amyotrophic lateral sclerosis 2 (Als2) protein Biochem Biophys Res Commun 413 3 2011 471 475
-
(2011)
Biochem Biophys Res Commun
, vol.413
, Issue.3
, pp. 471-475
-
-
Enunlu, I.1
Ozansoy, M.2
Basak, A.N.3
|