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Neurological Sciences, ISSN 1590-1874, 02/2019, Volume 40, Issue 2, pp. 429 - 431
Journal Article
Internal medicine (Tokyo, Japan), ISSN 0918-2918, 04/2019, Volume 58, Issue 16, pp. 2397 - 2400
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 581 - 590
Journal Article
Journal Article
BMC NEUROLOGY, ISSN 1471-2377, 06/2019, Volume 19, Issue 1, pp. 125 - 125
Journal Article
Journal of human genetics, 01/2019, Volume 64, Issue 1, p. 61
The originally published version of this article contained an error in Fig. 1 and Table 2. The correct figure and table of this article should have read as... 
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 03/2019, Volume 24, Issue 1, pp. 156 - 160
We report the first family with a glycyl‐tRNA synthetase ( GARS ) mutation with autosomal dominant intermediate Charcot‐Marie‐Tooth disease (DI‐CMT). The... 
autosomal dominant intermediate CMT | GARS | missense mutation | nerve biopsy | ARSs | MUSCULAR-ATROPHY SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Diagnosis | Ligases | Charcot-Marie-Tooth disease | Transfer RNA | Nerve conduction | Missense mutation | tRNA | Gait | Biopsy | Demyelination | Mutation | Sural nerve | Movement disorders
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 55 - 59
PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration... 
GENETIC-VARIATION | SPECTRUM | PLA2G6 MUTATIONS | GENETICS & HEREDITY
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 10/2014, Volume 59, Issue 10, pp. 569 - 573
To date, four families with spinocerebellar ataxia type 5 (SCA5) with four distinct mutations in the spectrin, beta, nonerythrocytic 2 gene (SPTBN2) have been... 
SPECTRIN MUTATIONS | SPINOCEREBELLAR ATAXIA TYPE-5 | GENETICS & HEREDITY | Sequence Deletion | Exons | Humans | Japan | Middle Aged | Molecular Sequence Data | Male | DNA - chemistry | DNA Mutational Analysis | Pedigree | Base Sequence | Aged, 80 and over | Female | Spectrin - genetics | Spinocerebellar Ataxias - genetics
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2016, Volume 372, pp. 128 - 130
Highlights • We report coexistence of two kinds of mutations for SPG30 and SCA31 in a family. • A novel homozygous missense p.S242R mutation in KIF1A was... 
Neurology | SPG30 | KIF1A | Spastic paraplegia | Spinocerebellar ataxia | SCA31 | Thymidine Kinase - genetics | Introns | Humans | Middle Aged | Kinesin - genetics | Family | Male | Spinocerebellar Ataxias - physiopathology | Polymorphism, Single Nucleotide | Mutation | Spinocerebellar Ataxias - psychology | Spinocerebellar Ataxias - genetics
Journal Article
Neurological Sciences, ISSN 1590-1874, 11/2016, Volume 37, Issue 11, pp. 1873 - 1874
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10072-016-2635-5 
SCA1 | Hot cross bun sign | Late-onset cerebellar ataxia | SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | Aged, 80 and over | Male | Pons - diagnostic imaging | Cerebellum - diagnostic imaging | Humans | Spinocerebellar Ataxias - diagnostic imaging | College graduates
Journal Article
Neurology and Clinical Neuroscience, ISSN 2049-4173, 09/2015, Volume 3, Issue 5, pp. 197 - 199
We report a 45‐year‐old Japanese man with SCA 19/22. Whole‐exome sequencing revealed a heterozygous missense mutation (c.1169G>A, p.S390N) in the KCND 3 gene.... 
SCA | juvenile onset | 3 | 19/22 | whole‐exome sequencing | KCND | autosomal dominant cerebellar ataxia | Ataxia | Nuclear magnetic resonance--NMR | Mutation
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 2018, Volume 64, Issue 2, pp. 171 - 176
The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form... 
ENDOPLASMIC-RETICULUM | HEREDITARY MOTOR | GENETICS & HEREDITY
Journal Article
Clinical Autonomic Research, ISSN 0959-9851, 6/2018, Volume 28, Issue 3, pp. 347 - 349
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10286-017-0497-4 
Muscle sympathetic nerve activity | Neurology | Medicine & Public Health | Skin sympathetic nerve activity | Reflex latency | Gastroenterology | Electrical stimulation | Diabetes | Ophthalmology | Pure autonomic failure | Cardiology | Endocrinology | OUTFLOW | NEUROSCIENCES | CLINICAL NEUROLOGY | Skin | Autonomic nervous system
Journal Article
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