A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures

Kaja K. Selmer; Einar Bryne; Olaug K. Rødningen; Madeleine Fannemel

doi:10.1016/j.ejmg.2012.08.005

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2012.08.005 ◽

2012 ◽

Vol 55 (12) ◽

pp. 715-718 ◽

Cited By ~ 5

Author(s):

Kaja K. Selmer ◽

Einar Bryne ◽

Olaug K. Rødningen ◽

Madeleine Fannemel

Keyword(s):

Corpus Callosum ◽

De Novo ◽

Thin Corpus Callosum ◽

Psychomotor Delay

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Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61592 ◽

2020 ◽

Vol 182 (7) ◽

pp. 1824-1828 ◽

Cited By ~ 1

Author(s):

Eleanor G. Ludington ◽

Sui Yu ◽

Ha Ae Bae ◽

Christopher P. Barnett

Keyword(s):

Corpus Callosum ◽

De Novo ◽

Intellectual Impairment ◽

Thin Corpus Callosum

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Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report

European Journal of Medical Case Reports ◽

10.24911/ejmcr/1/29 ◽

2017 ◽

pp. 122-125

Author(s):

Archana Murugan ◽

Andrew Mallick ◽

Laraine Dibble ◽

Mohamed Babiker

Keyword(s):

Case Report ◽

Corpus Callosum ◽

Diagnostic Marker ◽

Spastic Paraparesis ◽

Thin Corpus Callosum ◽

Hereditary Spastic Paraparesis

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Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters

Journal of Clinical Neuroscience ◽

10.1016/s0967-5868(03)00157-7 ◽

2004 ◽

Vol 11 (4) ◽

pp. 427-430 ◽

Cited By ~ 4

Author(s):

Steve Vucic ◽

Tanya Lye ◽

Graham Dunn ◽

Alastair Corbett

Keyword(s):

Corpus Callosum ◽

Autosomal Recessive ◽

Spastic Paraparesis ◽

Thin Corpus Callosum ◽

Hereditary Spastic Paraparesis

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Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings

Acta Neurologica Scandinavica ◽

10.1034/j.1600-0404.2002.01210.x ◽

2002 ◽

Vol 106 (4) ◽

pp. 222-224 ◽

Cited By ~ 7

Author(s):

B. Okuda ◽

Y. Iwamoto ◽

H. Tachibana

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Clinical Description

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FP31-WE-04 Complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum: a new locus and further genetic heterogeneity

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(09)70432-0 ◽

2009 ◽

Vol 285 ◽

pp. S106-S107

Author(s):

A. Boukhris ◽

I. Feki ◽

N. Elleuch ◽

M.I. Miladi ◽

S. Forlani ◽

...

Keyword(s):

Corpus Callosum ◽

Genetic Heterogeneity ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Mental Impairment

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Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum

Acta Neurologica Scandinavica ◽

10.1034/j.1600-0404.2000.102003196.x ◽

2000 ◽

Vol 102 (3) ◽

pp. 196-199 ◽

Cited By ~ 21

Author(s):

S. Okubo ◽

M. Ueda ◽

T. Kamiya ◽

S. Mizumura ◽

A. Terashi ◽

...

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia ◽

Thin Corpus Callosum

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SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

Journal of the Korean Neurological Association ◽

10.17340/jkna.2020.4.27 ◽

2020 ◽

Vol 38 (4) ◽

pp. 359-361

Author(s):

Haelim Kim ◽

Young Gi Min ◽

Sang Bin Hong ◽

Man-Jin Kim ◽

Moon-Woo Seong ◽

...

Keyword(s):

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Gene Panel ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Gene Panel Sequencing ◽

Panel Sequencing

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Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter

Neuropathology ◽

10.1111/j.1440-1789.2005.00620.x ◽

2005 ◽

Vol 25 (4) ◽

pp. 346-352 ◽

Cited By ~ 17

Author(s):

Satoshi Kuru ◽

Motoko Sakai ◽

Masaaki Konagaya ◽

Mari Yoshida ◽

Yoshio Hashizume

Keyword(s):

White Matter ◽

Corpus Callosum ◽

Hereditary Spastic Paraplegia ◽

Cerebral White Matter ◽

Autopsy Case ◽

Spastic Paraplegia ◽

Thin Corpus Callosum

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Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study

Journal of the Neurological Sciences ◽

10.1016/j.jns.2022.120144 ◽

2022 ◽

pp. 120144

Author(s):

Nouf Alfaidi ◽

Turki Sobahy ◽

Qurban Ali ◽

Youssef Al Said ◽

Gulzar Karim ◽

...

Keyword(s):

Saudi Arabia ◽

Corpus Callosum ◽

Cross Section ◽

Visual Evoked Potentials ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Pattern Reversal ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Base Study

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Benzodiazepine Receptor Binding in Japanese Subtype of Hereditary Spastic Paraplegia with a Thin Corpus Callosum

Physiological Imaging of the Brain with PET ◽

10.1016/b978-012285751-5/50059-4 ◽

2001 ◽

pp. 389-393

Author(s):

Masayuki Ueda ◽

Kiyoshi Iwabuchi ◽

Masahiro Mishina ◽

Tatsushi Kamiya ◽

Hideki Nagatomo ◽

...

Keyword(s):

Corpus Callosum ◽

Receptor Binding ◽

Hereditary Spastic Paraplegia ◽

Benzodiazepine Receptor ◽

Spastic Paraplegia ◽

Thin Corpus Callosum

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