Search Results - "Goto, Kiyoe"

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan by Aida, Izumi, Ozawa, Tetsuo, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi

“…Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This…”
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity by Aida, Izumi, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Ohta, Kentaro, Nakajima, Takashi

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound…”
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Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1 by Ohta, Kentaro, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi

“…Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive…”
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Becker muscular dystrophy caused by exon 2-truncating mutation of DMD by Ikeda, Tetsuhiko, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi, Ozawa, Tetsuo

“…Nonsense and frameshift mutations of the dystrophin ( DMD ) gene usually cause severe Duchenne muscular dystrophy (DMD). Interestingly, however, premature stop…”
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Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine by Maruyama, Hiroki, Takata, Takuma, Tsubata, Yutaka, Tazawa, Ryushi, Goto, Kiyoe, Tohyama, Jun, Narita, Ichiei, Yoshioka, Hidekatsu, Ishii, Satoshi

“…Previous reports of Fabry disease screening in dialysis patients indicate that α-galactosidase A activity alone cannot specifically and reliably identify…”
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Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report by Nagai, Takahiro, Sunami, Yoko, Kato, Risa, Sugai, Megumi, Takahara, Makoto, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Okanura, Osamu, Nakajima, Takashi, Ozawa, Tetsuo

“…Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the SPAST gene, which encodes a…”
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Prenatal molecular diagnosis of X‐linked hydrocephalus via a silent C924T mutation in the L1CAM gene by Serikawa, Takehiro, Nishiyama, Kenichi, Tohyama, Jun, Tazawa, Ryushi, Goto, Kiyoe, Kuriyama, Yoko, Haino, Kazufumi, Kanemura, Yonehiro, Yamasaki, Mami, Nakata, Koh, Takakuwa, Koichi, Enomoto, Takayuki

“…We present a case of a patient whose L1CAM gene in X‐chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature…”
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A Case of Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1 by Ohta, Kentaro, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi

“…Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive…”
Get full text

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan by Aida, Izumi, Ozawa, Tetsuo, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi

“…Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This…”
Get full text

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity by Aida, Izumi, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Ohta, Kentaro, Nakajima, Takashi

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound…”
Get full text

Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report by Nagai, Takahiro, Sunami, Yoko, Kato, Risa, Sugai, Megumi, Takahara, Makoto, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Okanura, Osamu, Nakajima, Takashi, Ozawa, Tetsuo

“…Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the SPAST gene, which encodes a…”
Get full text

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene by Serikawa, Takehiro, Nishiyama, Kenichi, Tohyama, Jun, Tazawa, Ryushi, Goto, Kiyoe, Kuriyama, Yoko, Haino, Kazufumi, Kanemura, Yonehiro, Yamasaki, Mami, Nakata, Koh, Takakuwa, Koichi, Enomoto, Takayuki

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