Crossref Citations
This article has been cited by the following publications. This list is generated based on data provided by
Crossref.
Skoyles, John R.
2006.
Human balance, the evolution of bipedalism and dysequilibrium syndrome.
Medical Hypotheses,
Vol. 66,
Issue. 6,
p.
1060.
Ozcelik, Tayfun
Akarsu, Nurten
Uz, Elif
Caglayan, Safak
Gulsuner, Suleyman
Onat, Onur Emre
Tan, Meliha
and
Tan, Uner
2008.
Mutations in the very low-density lipoprotein receptor
VLDLR
cause cerebellar hypoplasia and quadrupedal locomotion in humans
.
Proceedings of the National Academy of Sciences,
Vol. 105,
Issue. 11,
p.
4232.
Moheb, Lia Abbasi
Tzschach, Andreas
Garshasbi, Masoud
Kahrizi, Kimia
Darvish, Hossein
Heshmati, Yaser
Kordi, Alireza
Najmabadi, Hossein
Ropers, Hans Hilger
and
Kuss, Andreas Walter
2008.
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
European Journal of Human Genetics,
Vol. 16,
Issue. 2,
p.
270.
TAN, ÜNER
KARACA, SIBEL
TAN, MELIHA
YILMAZ, BEKIR
BAGCI, NAMIK KEMAL
OZKUR, AYHAN
and
PENCE, SADRETTIN
2008.
UNERTAN SYNDROME: A CASE SERIES DEMONSTRATING HUMAN DEVOLUTION.
International Journal of Neuroscience,
Vol. 118,
Issue. 1,
p.
1.
Türkmen, S
Hoffmann, K
Demirhan, Osman
Aruoba, Defne
Humphrey, N
and
Mundlos, S
2008.
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
European Journal of Human Genetics,
Vol. 16,
Issue. 9,
p.
1070.
Volpe, Joseph J
2008.
Neurology of the Newborn.
p.
3.
Boycott, Kym M.
Bonnemann, Carsten
Herz, Joachim
Neuert, Stephanie
Beaulieu, Chandree
Scott, James N.
Venkatasubramanian, Anuradha
and
Parboosingh, Jillian S.
2009.
Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome).
Journal of Child Neurology,
Vol. 24,
Issue. 10,
p.
1310.
Poretti, Andrea
Prayer, Daniela
and
Boltshauser, Eugen
2009.
Morphological spectrum of prenatal cerebellar disruptions.
European Journal of Paediatric Neurology,
Vol. 13,
Issue. 5,
p.
397.
Embiruçu, Emília Katiane
Martyn, Marcília Lima
Schlesinger, David
and
Kok, Fernando
2009.
Autosomal recessive ataxias: 20 types, and counting.
Arquivos de Neuro-Psiquiatria,
Vol. 67,
Issue. 4,
p.
1143.
Jissendi-Tchofo, Patrice
Kara, Simay
and
Barkovich, A. James
2009.
Midbrain–hindbrain involvement in lissencephalies.
Neurology,
Vol. 72,
Issue. 5,
p.
410.
Dobyns, William B.
Guerrini, Renzo
and
Leventer, Richard J.
2012.
Swaiman's Pediatric Neurology.
p.
202.
Guergueltcheva, Velina
Azmanov, Dimitar N.
Angelicheva, Dora
Smith, Katherine R.
Chamova, Teodora
Florez, Laura
Bynevelt, Michael
Nguyen, Thai
Cherninkova, Sylvia
Bojinova, Veneta
Kaprelyan, Ara
Angelova, Lyudmila
Morar, Bharti
Chandler, David
Kaneva, Radka
Bahlo, Melanie
Tournev, Ivailo
and
Kalaydjieva, Luba
2012.
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1.
The American Journal of Human Genetics,
Vol. 91,
Issue. 3,
p.
553.
Ali, Bassam R
Silhavy, Jennifer L
Gleeson, Matthew J
Gleeson, Joseph G
and
Al-Gazali, Lihadh
2012.
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
BMC Medical Genetics,
Vol. 13,
Issue. 1,
Vedolin, L.
Gonzalez, G.
Souza, C.F.
Lourenço, C.
and
Barkovich, A.J.
2013.
Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI.
American Journal of Neuroradiology,
Vol. 34,
Issue. 5,
p.
925.
Schlotawa, Lars
Hotz, Alrun
Zeschnigk, Christine
Hartmann, Britta
Gärtner, Jutta
and
Morris-Rosendahl, Deborah
2013.
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
Journal of Neurology,
Vol. 260,
Issue. 6,
p.
1678.
Abumansour, Iman S.
Wrogemann, Jens
Chudley, Albert E.
Chodirker, Bernard N.
and
Salman, Michael S.
2014.
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts.
Journal of Child Neurology,
Vol. 29,
Issue. 6,
p.
860.
Kizhakkedath, Praseetha
Loregger, Anke
John, Anne
Bleijlevens, Boris
Al-Blooshi, Ali S.
Al-Hosani, Ahmed H.
Al-Nuaimi, Ahmed M.
Al-Gazali, Lihadh
Zelcer, Noam
and
Ali, Bassam R.
2014.
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research,
Vol. 1843,
Issue. 12,
p.
2871.
Kumar, Pankaj
Al-Shafai, Mashael
Al Muftah, Wadha Ahmed
Chalhoub, Nader
Elsaid, Mahmoud F
Aleem, Alice Abdel
and
Suhre, Karsten
2014.
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.
BMC Research Notes,
Vol. 7,
Issue. 1,
Bernardino, Filipa
Rentmeister, Kai
Schmidt, Martin J.
Bruehschwein, Andreas
Matiasek, Kaspar
Matiasek, Lara A.
Lauda, Alexander
Schoon, Heinz A.
Fischer, Andrea
and
de Castro, Fernando
2015.
Inferior Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation in Purebred Eurasier Dogs with Familial Non-Progressive Ataxia: A Retrospective and Prospective Clinical Cohort Study.
PLOS ONE,
Vol. 10,
Issue. 2,
p.
e0117670.
Triggs‐Raine, Barbara
Dyck, Tamara
Boycott, Kym M.
Innes, A. Micheil
Ober, Carole
Parboosingh, Jillian S.
Botkin, Alexis
Greenberg, Cheryl R.
and
Spriggs, Elizabeth L.
2016.
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Molecular Genetics & Genomic Medicine,
Vol. 4,
Issue. 3,
p.
312.