نتائج البحث

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

• Authors : Ghorbani, Fatemeh; de Boer, Eddy N; Benjamins-Stok, Marloes

• Source: Ghorbani, F, de Boer, E N, Benjamins-Stok, M, Verschuuren-Bemelmans, C C, Knapper, J, de Boer-Bergsma, J, de Vries, J J, Sikkema-Raddatz, B, Verbeek, D S, Westers, H & van Diemen, C C 2023, 'Copy

تفاصيل العنوان

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

• Authors : Smets, Katrien; Duarri , Anna; Deconinck, Tine

Subjects: Early onset cerebellar ataxia; Epilepsy; Intellectual disability

• Source: Smets, K, Duarri , A, Deconinck, T, Ceulemans, B, van de Warrenburg, B P, Zuechner, S, Gonzalez, M A, Schuele, R, Synofzik, M, Van der Aa, N, De Jonghe, P, Verbeek, D S & Baets, J 2015, 'First de novo

تفاصيل العنوان

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

• Authors : Tonholo Silva, Thiago Y; Rosa, Augusto B R; Quaio, Caio R

• Source: Tonholo Silva, T Y, Rosa, A B R, Quaio, C R, Verbeek, D, Pedroso, J L & Barsottini, O 2021, 'Does SCA45 Cause Very Late-Onset Pure Cerebellar

تفاصيل العنوان

A clinical diagnostic algorithm for early onset cerebellar ataxia

• Authors : Brandsma, R.; Verschuuren-Bemelmans, C. C.; Amrom, D.

Subjects: Early Onset Ataxia; Child; Algorithm

• Source: Brandsma, R, Verschuuren-Bemelmans, C C, Amrom, D, Barisic, N, Baxter, P, Bertini, E, Blumkin, L, Brankovic-Sreckovic, , Brouwer, O F, Buerk, K, Catsman-Berrevoets, C E, Craiu, D, de Coo, I F M,

تفاصيل العنوان

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

• Authors : De Warrenburg, Bart P. van; Schouten, Meyke I.; de Bot, Susanne T.

Subjects: PROGRESSIVE MYOCLONUS EPILEPSY; DE-NOVO MUTATIONS; CONGENITAL DISORDER

• Source: De Warrenburg, B P V, Schouten, M I, de Bot, S T, Vermeer, S, Meijer, R, Pennings, M, Gilissen, C, Willemsen, M A A P, Scheffer, H & Kamsteeg, E-J 2016, 'Clinical exome sequencing for

تفاصيل العنوان

Instrumented Gait Classification Using Meaningful Features in Patients with Impaired Coordination

• Authors : Dominguez-Vega, Zeus T; de Quiros, Mariano Bernaldo; Elting, Jan Willem J

Subjects: Child; Humans; Ataxia/diagnosis

• Source: Dominguez-Vega, Z T, de Quiros, M B, Elting, J W J, Sival, D A & Maurits, N M 2023, 'Instrumented Gait Classification Using Meaningful Features in Patients with Impaired Coordination', Sensors, vol.

تفاصيل العنوان

Early onset ataxia with comorbid myoclonus and epilepsy:A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement

• Authors : van Noort, Suus A M; van der Veen, Sterre; de Koning, Tom J

Subjects: Humans; Myoclonus/complications; Ataxia/complications

• Source: van Noort, S A M, van der Veen, S, de Koning, T J, de Koning-Tijssen, M A J, Verbeek, D S & Sival, D A 2023, 'Early onset ataxia with comorbid myoclonus and epilepsy : A

تفاصيل العنوان

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3

• Authors : Maas, Roderick P. P. W. M.; Teerenstra, Steven; Lima, Manuela

Subjects: spinocerebellar ataxia type 3; natural history; Scale for the Assessment and Rating of Ataxia

• Source: Maas, R P P W M, Teerenstra, S, Lima, M, Pires, P, Pereira de Almeida, L, van Gaalen, J, Timmann, D, Infante, J, Onyike, C, Bushara, K, Jacobi, H, Reetz, K, Santana, M M, Afonso Ribeiro, J,

تفاصيل العنوان

Early Onset Ataxia with Comorbid Dystonia:Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

• Authors : Sival, Deborah A; Garofalo, Martinica; Brandsma, Rick

Subjects: clinical genetics; early onset ataxia; dystonia

• Source: Sival , D A , Garofalo , M , Brandsma , R , Bokkers , T A , van den Berg , M , de Koning , T J , Tijssen , M A J & Verbeek , D S 2020 , ' Early Onset Ataxia with

تفاصيل العنوان

Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

• Authors : Huang, Miaozhen; Verbeek, Dineke S.

Subjects: Purkinje Cell; Spinocerebellar ataxia; Genetic mechanisms

• Source: Huang , M & Verbeek , D S 2019 , ' Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? ' , Neuroscience Letters , vol. 688 ,

تفاصيل العنوان