Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

Journal of Child Neurology ◽

10.1177/0883073809332696 ◽

2009 ◽

Vol 24 (10) ◽

pp. 1310-1315 ◽

Author(s):

Kym M. Boycott ◽

Carsten Bonnemann ◽

Joachim Herz ◽

Stephanie Neuert ◽

Chandree Beaulieu ◽

...

Keyword(s):

Mental Retardation ◽

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Autosomal Recessive Cerebellar Ataxia

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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Brain ◽

10.1093/brain/awt338 ◽

2013 ◽

Vol 137 (2) ◽

pp. 411-419 ◽

Author(s):

Martial Mallaret ◽

Matthis Synofzik ◽

Jaeho Lee ◽

Cari A. Sagum ◽

Muhammad Mahajnah ◽

...

Keyword(s):

Mental Retardation ◽

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Suppressor Gene ◽

Tumour Suppressor Gene ◽

Tumour Suppressor ◽

Autosomal Recessive Cerebellar Ataxia

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Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

Neuropediatrics ◽

10.1055/s-0037-1603019 ◽

2017 ◽

Vol 48 (S 01) ◽

pp. S1-S45

Author(s):

A. Enderli ◽

B. Heinrich ◽

P. Joset ◽

J. De Geyter ◽

J. Scheer ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Splice Mutation ◽

Autosomal Recessive Cerebellar Ataxia

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Spectrin-associated autosomal recessive cerebellar ataxia

10.32388/gqwz1k ◽

2020 ◽

Author(s):

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Autosomal Recessive Cerebellar Ataxia

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LINKAGE TO CHROMOSOME 13Q11‐12 OF AN AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA IN A TUNISIAN FAMILY

Journal of the Peripheral Nervous System ◽

10.1111/j.1529-8027.2000.22-22.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 241-242

Author(s):

N Mrissa ◽

S Belal ◽

C Ben Hamida ◽

R Amouri ◽

I Turki ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Autosomal Recessive Cerebellar Ataxia ◽

Tunisian Family

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Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation

European Neurology ◽

10.1159/000445109 ◽

2016 ◽

Vol 75 (3-4) ◽

pp. 186-190 ◽

Author(s):

Ludivine Chamard ◽

Géraldine Sylvestre ◽

Michel Koenig ◽

Eloi Magnin

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Porencephalic Cyst ◽

Autosomal Recessive Cerebellar Ataxia ◽

Attentional Disorders ◽

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Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within theANO10Gene

JAMA Neurology ◽

10.1001/jamaneurol.2014.3918 ◽

2015 ◽

Vol 72 (2) ◽

pp. 238 ◽

Author(s):

Martina Minnerop ◽

Peter Bauer

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Autosomal Recessive Cerebellar Ataxia

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A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

Neurogenetics ◽

10.1007/s10048-001-0127-z ◽

2002 ◽

Vol 4 (1) ◽

pp. 23-27 ◽

Author(s):

Valérie Delague ◽

Corinne Bareil ◽

Patrice Bouvagnet ◽

Nabiha Salem ◽

Eliane Chouery ◽

...

Keyword(s):

Mental Retardation ◽

Cerebellar Ataxia ◽

Optic Atrophy ◽

Autosomal Recessive ◽

Skin Abnormalities

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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Genetics in Medicine ◽

10.1038/gim.2014.95 ◽

2014 ◽

Vol 17 (4) ◽

pp. 291-299 ◽

Author(s):

Kristof Van Schil ◽

Françoise Meire ◽

Marcus Karlstetter ◽

Miriam Bauwens ◽

Hannah Verdin ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Early Onset ◽

Autosomal Recessive ◽

Retinal Dystrophy ◽

Autosomal Recessive Cerebellar Ataxia

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PEX10 mutation; Autosomal recessive cerebellar ataxia

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2017.04.1038 ◽

2017 ◽

Vol 21 ◽

pp. e135

Author(s):

Mehmet Canpolat ◽

Gül Demet Kaya Ozcora ◽

Murat Erdoğan ◽

Hamit Acer ◽

Sefer Kumandaş

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Autosomal Recessive Cerebellar Ataxia

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Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family

Journal of the Neurological Sciences ◽

10.1016/j.jns.2016.11.036 ◽

2017 ◽

Vol 372 ◽

pp. 97-100 ◽

Author(s):

Hussein Algahtani ◽

Yousef Marzouk ◽

Raghad Algahtani ◽

Sali Salman ◽

Bader Shirah

Keyword(s):

Multiple Sclerosis ◽

Cerebellar Ataxia ◽

Autosomal Recessive ◽

Novel Mutation ◽

Autosomal Recessive Cerebellar Ataxia ◽

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