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Neurology
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February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
G Lesca, E Eymard-Pierre, F M Santorelli, et al.
Parkinsonism & Related Disorders
|
May 8, 2025
Combined assessment of blood glucocerebrosidase activity and α-synuclein levels in GBA1 mutation carriers: A novel potential biomarker
M Avenali, S P Caminiti, M Gegg, et al.
Clinical Genetics
|
June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
F Brancati, L Travaglini, D Zablocka, et al.
Neurology
|
May 25, 2005
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
M T Pellecchia, E M Valente, L Cif, et al.
Cell Death and Differentiation
|
January 9, 2010
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy
S Michiorri, V Gelmetti, E Giarda, et al.
Neurobiology of Disease
|
January 8, 2010
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia
M Walter, M Bonin, R Saunders Pullman, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 17, 1999
Primary torsion dystonia: the search for genes is not over
P R Jarman, N del Grosso, E M Valente, et al.
Clinical Genetics
|
April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
A Torraco, M Bianchi, D Verrigni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 28, 2003
PARK6 is a common cause of familial parkinsonism
E M Valente, F Brancati, V Caputo, et al.
Neurology
|
January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
C Casali, E M Valente, E Bertini, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 61) with videos related to
Sort By:
Page
of 7
Neurology
|
February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
G Lesca, E Eymard-Pierre, F M Santorelli, et al.
Parkinsonism & Related Disorders
|
May 8, 2025
Combined assessment of blood glucocerebrosidase activity and α-synuclein levels in GBA1 mutation carriers: A novel potential biomarker
M Avenali, S P Caminiti, M Gegg, et al.
Clinical Genetics
|
June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
F Brancati, L Travaglini, D Zablocka, et al.
Neurology
|
May 25, 2005
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
M T Pellecchia, E M Valente, L Cif, et al.
Cell Death and Differentiation
|
January 9, 2010
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy
S Michiorri, V Gelmetti, E Giarda, et al.
Neurobiology of Disease
|
January 8, 2010
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia
M Walter, M Bonin, R Saunders Pullman, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 17, 1999
Primary torsion dystonia: the search for genes is not over
P R Jarman, N del Grosso, E M Valente, et al.
Clinical Genetics
|
April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
A Torraco, M Bianchi, D Verrigni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 28, 2003
PARK6 is a common cause of familial parkinsonism
E M Valente, F Brancati, V Caputo, et al.
Neurology
|
January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
C Casali, E M Valente, E Bertini, et al.
Page
of 7