M. Sasaki

A. Takahashi, M. Iwasaki, M. Sasaki, 2019, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly

A. Takahashi, S. Nabatame, M. Sasaki, 2012, Brain Research.

Behavioral Improvement Following Focal Resection in a Child with Frontal Lobe Epilepsy : A Case Report

M. Kaga, M. Sasaki, Hideyuki Nakama, 2009 .

Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy

M. Inagaki, M. Iwasaki, M. Sasaki, 2020, Brain and Development.

Postnatal evolution of cortical malformation in the “non-affected” hemisphere of hemimegalencephaly

M. Sasaki, T. Otsuki, E. Nakagawa, 2010, Brain and Development.

Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN).

H. Matsuda, N. Hattori, N. Maikusa, 2020, Journal of neuroradiology = Journal de neuroradiologie.

A case of alternating hemiplegia of childhood with cerebellar atrophy.

M. Sasaki, T. Hashimoto, K. Sugai, 1998, Pediatric neurology.

Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood

T. Ohnishi, H. Matsuda, M. Sasaki, 2009, Brain and Development.

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.

E. Engle, Y. Nakata, Toshiyuki Yamamoto, 2014, Pediatric neurology.

A severely brain-damaged case of 3-hydroxyisobutyric aciduria

M. Sasaki, M. Fukumizu, S. Yamaguchi, 2001, Brain and Development.

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis

S. Tsujino, M. Kaga, M. Sasaki, 2001, Journal of Human Genetics.

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

H. Mochizuki, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder

J. Takanashi, H. Sugimoto, M. Sasaki, 2019, Brain and Development.

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

T. Matsuishi, A. Fattal-Valevski, A. Takata, 2019, Journal of Medical Genetics.

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

N. Matsumoto, H. Osaka, H. Saitsu, 2015, Journal of Neurology.

Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis

Y. Takahashi, M. Sasaki, H. Sakuma, 2010, Acta neurologica Scandinavica.

Extremely severe complicated spastic paraplegia 3A with neonatal onset.

T. Yonekawa, M. Sasaki, H. Takashima, 2014, Pediatric neurology.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

S. Tsuji, S. Suwazono, M. Nakagawa, 2020, Journal of the peripheral nervous system : JPNS.

The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy

H. Matsuda, Yuji Takahashi, S. Kuwabara, 2020, Journal of the Neurological Sciences.

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures

M. Sasaki, S. Hirose, K. Sugai, 2017, Clinical genetics.

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis

S. Tsujino, Tomokatsu Yoshida, M. Nakagawa, 2011, Journal of Neurology.

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Y. Matsubara, Y. Aoki, M. Sasaki, 2011, Brain and Development.

Mechanical ventilation care in severe childhood neurological disorders

M. Kaga, M. Sasaki, M. Fukumizu, 2001, Brain and Development.

A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

E. Koshimizu, M. Sasaki, M. Ogasawara, 2019, Neuropediatrics.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

M. Kubota, M. Sasaki, K. Kurosawa, 2011, Brain and Development.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions

I. Nishino, M. Sasaki, N. Minami, 2017, Neuromuscular Disorders.

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

I. Nonaka, I. Nishino, M. Sasaki, 2018, Human Genome Variation.

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Neuromuscular Disorders.

A nationwide survey on Marinesco-Sjögren syndrome in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2014, Orphanet Journal of Rare Diseases.

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

I. Nonaka, I. Nishino, M. Sasaki, 2010, Brain and Development.

Hemiconvulsion–hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

H. Kurahashi, M. Sasaki, E. Nakagawa, 2009, Epilepsia.

MECP2 Duplication Syndrome in Male Patients with Severe Mental Retardation and Intractable Epilepsy

J. Inazawa, Y. Goto, J. Tohyama, 2010 .

Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN

Yoshihiko Saito, I. Nishino, M. Sasaki, 2018, Neurology.

Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.

A. Takahashi, S. Koizumi, M. Hoshino, 2017, The American journal of pathology.

A pediatric patient with myopathy associated with antibodies to a signal recognition particle

Y. Hayashi, I. Nishino, M. Sasaki, 2012, Brain and Development.

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

MRI and CT findings in Krabbe disease.

M. Sasaki, N. Sakuragawa, M. Arima, 1991, Pediatric neurology.

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy

S. Takeda, Y. Aoki, M. Sasaki, 2018, Science Translational Medicine.

Profiles of blood biomarkers in alternating hemiplegia of childhood – Increased MMP-9 and decreased substance P indicates its pathophysiology

Yu‐ichi Goto, M. Sasaki, Yoshiaki Saito, 2012, Brain and Development.

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers

M. Sasaki, H. Tachimori, E. Nakagawa, 2018, Brain and Development.

A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy

M. Sasaki, A. Ishiyama, E. Takeshita, 2018, Annals of clinical and translational neurology.

Amniotic tissue transplantation: Clinical and biochemical evaluations for some lysosomal storage diseases

M. Sasaki, N. Sakuragawa, H. Yoshikawa, 1992, Brain and Development.

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

N. Matsumoto, N. Miyake, M. Sasaki, 2015, American journal of medical genetics. Part A.

mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis.

M. Sasaki, K. Lovell, J. R. Möller, 1996, Brain research. Developmental brain research.

Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine β-mannosidosis

M. Sasaki, K. Lovell, Johanna R. Mo¨ller, 1993, Brain Research.

Acute nonparaneoplastic limbic encephalitis in childhood: a case series in Japan.

M. Sasaki, K. Sugai, H. Sakuma, 2010, Pediatric neurology.

Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests

Yoshihiko Saito, I. Nishino, M. Sasaki, 2022, Journal of the Neurological Sciences.

Reconsideration of the diagnosis and treatment of childhood migraine: A practical review of clinical experiences

Y. Maegaki, H. Shimomura, M. Sasaki, 2017, Brain and Development.

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation

Y. Goto, M. Sasaki, E. Nakagawa, 2011, Journal of the Neurological Sciences.

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis

E. Nanba, Y. Maegaki, M. Sasaki, 2017, Brain and Development.

Three Cases of Myoclonic Encephalopathy in Non-progressive Disorders

M. Sasaki, E. Nakagawa, K. Sugai, 2017 .

Absence of small-vessel abnormalities in alternating hemiplegia of childhood

K. Arima, M. Sasaki, Takehiko Inui, 2011, Brain and Development.

Treatment of epilepsy in severely disabled children with bilateral brain malformations

Y. Maegaki, M. Sasaki, T. Otsuki, 2009, Journal of Neurological Sciences.

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

M. Sasaki, M. Murata, K. Sugai, 2015, Neuromuscular Disorders.

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations

K. Kikuchi, S. Saitoh, M. Sasaki, 2015, Brain and Development.

Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome

S. Takashima, E. Ohama, M. Sasaki, 2001, Brain and Development.

Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms

M. Sasaki, E. Nakagawa, K. Sugai, 2010, Brain and Development.

Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.

K. Kobayashi, M. Sasaki, T. Hashimoto, 1998, Electroencephalography and clinical neurophysiology.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

N. Matsumoto, M. Shiina, K. Ogata, 2011, American journal of human genetics.

Effect of selenium deficiency on cardiac function of individuals with severe disabilities under long‐term tube feeding

M. Sasaki, T. Hashimoto, K. Sugai, 1998, Developmental medicine and child neurology.

Startle-induced epilepsy in a patient with epidermal nevus syndrome.

H. Matsuda, M. Sasaki, T. Hashimoto, 1998, Pediatric neurology.

Clinical Aspects of Hemimegalencephaly by Means of a Nationwide Survey

M. Sasaki, T. Hashimoto, K. Sugai, 2004, Journal of child neurology.

Familial reducing body myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Brain and Development.

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus

M. Sasaki, E. Nakagawa, K. Sugai, 2009, Epilepsy Research.

Case Report Familial reducing body myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2007 .

Congenital monomelic neurogenic disorder with calf muscle hypertrophy

I. Nonaka, M. Sasaki, M. Fukumizu, 2003, Brain and Development.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

I. Nonaka, Y. Hayashi, N. Laing, 2011, Neuromuscular Disorders.

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification

S. Robertson, I. Nonaka, I. Nishino, 2009, Neuromuscular Disorders.

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

Y. Goto, I. Nonaka, I. Nishino, 2016, Neurology: Genetics.

Respiratory failure in nemaline myopathy.

I. Nonaka, M. Sasaki, M. Takeda, 1997, Pediatric neurology.

A mild case of giant axonal neuropathy without central nervous system manifestation

T. Shiihara, M. Sasaki, H. Takashima, 2016, Brain and Development.

Whole genome sequencing of 45 Japanese patients with intellectual disability

Y. Kamatani, M. Kubo, Y. Momozawa, 2021, American journal of medical genetics. Part A.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis

S. Takashima, M. Sasaki, K. Sugai, 1990, Brain & development (Tokyo. 1979).

Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report

N. Matsumoto, S. Miyatake, M. Sasaki, 2020, Molecular Syndromology.

Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

M. Ota, Y. Tsushima, M. Sasaki, 2009, Neuroradiology.

Apneustic breathing in children with brainstem damage due to hypoxic–ischemic encephalopathy

M. Sasaki, T. Hashimoto, M. Fukumizu, 1999, Developmental medicine and child neurology.

Drug-resistant temporal lobe epilepsy due to middle fossa meningoencephalocele in a child: A surgical case report

M. Iwasaki, M. Sasaki, Y. Takayama, 2022, Brain and Development.

Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients

Toshio Saito, K. Kuroda, M. Sasaki, 2012, Brain and Development.

Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey

M. Sasaki, K. Maruo, E. Nakagawa, 2019, Brain and behavior.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Arthur S. Lee, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study

M. Ota, M. Sasaki, E. Nakagawa, 2021, Neuroradiology.

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

T. Yonekawa, M. Sasaki, H. Takashima, 2013, Pediatric neurology.

A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation

S. Saitoh, M. Sasaki, E. Nakagawa, 2009, American journal of medical genetics. Part A.

Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality

M. Kaga, M. Inagaki, M. Sasaki, 2000, Brain and Development.

Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability: Coexistence of auditory neuropathy and cochlear hearing loss

M. Kaga, M. Sasaki, M. Fukumizu, 2006, Brain and Development.

Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children

M. Sasaki, E. Nakagawa, K. Sugai, 2010, Brain and Development.

Transient seizure disappearance due to bilateral striatal necrosis in a patient with intractable epilepsy

H. Matsuda, M. Sasaki, T. Hashimoto, 2000, Brain and Development.

Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression.

T. Akashi, S. Takashima, M. Sasaki, 2011, Cerebral cortex.

Case report CD4 + CD25 high regulatory T cell in childhood ocular myasthenia gravis

M. Sasaki, E. Nakagawa, K. Sugai, 2011 .

Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia

M. Sasaki, K. Sugai, N. Sakuragawa, 1997, Brain and Development.

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

A. Barkovich, J. Takanashi, H. Mori, 2014, Brain and Development.

Genotype–phenotype correlations in alternating hemiplegia of childhood

Akihiro Yasuhara, Hirokazu Oguni, Bo Zhang, 2014, Neurology.

Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan

Masayuki Sasaki, M. Ōsawa, M. Sasaki, 2001, Brain and Development.

Asymmetrical interhemispheric fiber tracts in patients with hemimegalencephaly on diffusion tensor magnetic resonance imaging.

T. Asada, F. Yamashita, M. Ota, 2009, Journal of neuroradiology. Journal de neuroradiologie.

Aberrant Midsagittal Fiber Tracts in Patients with Hemimegalencephaly

M. Ota, T. Takahashi, Y. Nakata, 2008, American Journal of Neuroradiology.

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

S. Nabatame, Toshiyuki Yamamoto, M. Sasaki, 2012, Seizure.

Hemifacial seizures due to ganglioglioma of cerebellum

M. Sasaki, T. Otsuki, E. Nakagawa, 2010, Brain and Development.

Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma

Yoshiaki Saito, Taisuke Otsuki, Hirofumi Komaki, 2011, Child's Nervous System.

Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly

H. Matsuda, M. Ota, M. Iwasaki, 2019, Brain and Development.

Electrophysiological evidence of cerebral dysfunction in childhood opsoclonus‐myoclonus syndrome

M. Kaga, M. Inagaki, M. Sasaki, 2010, Movement disorders : official journal of the Movement Disorder Society.

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum

J. Takanashi, H. Tada, M. Sasaki, 2009, Brain and Development.

The magnetic resonance imaging spectrum of Pelizaeus–Merzbacher disease: A multicenter study of 19 patients

K. Yokochi, H. Matsuda, J. Takanashi, 2016, Brain and Development.

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

M. Sasaki, E. Nakagawa, K. Sugai, 2012, No to hattatsu = Brain and development.

Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient

H. Matsuda, F. Yamashita, M. Sasaki, 2010, Neuroradiology.

Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy

Norio Sugawara, Yuji Takahashi, M. Sasaki, 2020, Neuropsychiatric disease and treatment.

NDT_A_235166 171..178

Norio Sugawara, Yuji Takahashi, M. Sasaki, 2020 .

Bromoderma in a patient with migrating partial seizures in infancy

S. Nabatame, M. Sasaki, E. Nakagawa, 2010, Epilepsy Research.

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation

N. Matsumoto, H. Saitsu, M. Sasaki, 2015, Brain and Development.

Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies

M. Sasaki, K. Sugai, A. Ishiyama, 2012, Brain and Development.

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan

I. Nonaka, M. Sasaki, K. Sugai, 2016, Brain and Development.

Linear cortical cystic lesions: Characteristic MR findings in MELAS patients

M. Sasaki, N. Sato, E. Takeshita, 2021, Brain and Development.

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

M. Sasaki, E. Nakagawa, N. Sato, 2007, No to hattatsu = Brain and development.

A case of bulbar type cerebral palsy: Representative symptoms of dorsal brainstem syndrome

Toshiyuki Yamamoto, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia

H. Matsuda, K. Kamiya, Masako Watanabe, 2014, Brain and Development.

Adaptive behavior and its related factors in children with focal epilepsy

M. Inagaki, M. Iwasaki, M. Sasaki, 2020, Epilepsy & Behavior.

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

N. Matsumoto, Tomomi Tanaka, T. Kinoshita, 2018, Brain and Development.

A case of congenital axonal neuropathy associated with West syndrome

I. Nonaka, M. Sasaki, E. Nakagawa, 2011, Brain and Development.

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

Yuichi Matsushima, Masayuki Sasaki, Seiji Yamaguchi, 2015, Human mutation.

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy

Y. Goto, I. Nishino, C. Sakai, 2018, Clinical genetics.

Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

S. Baba, M. Sasaki, E. Nakagawa, 2022, Brain and Development.

Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy

S. Nabatame, M. Sasaki, E. Nakagawa, 2011, Epilepsy Research.

Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria

M. Sasaki, M. Fukumizu, K. Sugai, 2006, Brain and Development.

Renal disease in Arima syndrome is nephronophthisis as in other Joubert‐related Cerebello–oculo–renal syndromes

K. Arima, M. Nagata, M. Sasaki, 2004, American journal of medical genetics. Part A.

Near-infrared Spectroscopy-based Assessment of Ictal Cerebral Hemodynamics of a Frontal Area in Startle Epilepsy

M. Sasaki, E. Nakagawa, K. Sugai, 2012 .

Startle epilepsy associated with gait‐induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies

M. Sasaki, E. Nakagawa, Y. Kaneko, 2009, Epilepsia.

Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection

N. Higurashi, M. Sasaki, E. Nakagawa, 2011, Brain and Development.

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene

Y. Goto, I. Nishino, M. Sasaki, 2014, Brain and Development.

Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere.

F. Yamashita, K. Nemoto, Y. Nakata, 2007, AJNR. American journal of neuroradiology.

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

Yuji Takahashi, M. Sasaki, H. Tachimori, 2017, Medicine.

Imbalance of interneuron distribution between neocortex and basal ganglia: Consideration of epileptogenesis of focal cortical dysplasia

T. Otsuki, A. Takahashi, M. Sasaki, 2012, Journal of the Neurological Sciences.

Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex

K. Ohtomo, K. Kamiya, Y. Nakata, 2013, Japanese Journal of Radiology.

Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency.

N. Okamoto, M. Sasaki, N. Sato, 2013, Clinical nuclear medicine.

Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy

A. Takahashi, K. Arima, M. Mizuguchi, 2009, Journal of the Neurological Sciences.

Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study

S. Ito, M. Sasaki, K. Mizuno, 2022, Brain and Development.

Periodic cycles of seizure clustering and suppression in children with epilepsy strongly suggest focal cortical dysplasia

A. Kakita, M. Iwasaki, M. Atobe, 2022, Developmental medicine and child neurology.

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L

S. Tsujino, M. Kaga, A. Imamura, 2003, Brain and Development.

Respiratory muscle involvement in nemaline myopathy.

I. Nonaka, M. Sasaki, H. Yoneyama, 1990, Pediatric Neurology.

A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis

H. Saitsu, M. Nakashima, M. Sasaki, 2020, Brain and Development.

Siblings of Schwartz-Jampel Syndrome with abnormal muscle computed tomographic findings

I. Nonaka, H. Ozawa, M. Sasaki, 2000, Brain and Development.

Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay–Sachs disease

M. Inagaki, M. Sasaki, K. Sugai, 2015, Brain and Development.

Uncoupling of blood flow and oxygen metabolism in the cerebellum in type 3 Gaucher disease

M. Sasaki, N. Sakuragawa, N. Fueki, 1991, Brain and Development.

A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding

Y. Goto, M. Sasaki, A. Iida, 2020, Journal of the Neurological Sciences.

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy

I. Nishino, K. Iwasawa, T. Okuyama, 2018, Brain and Development.

Disruption of the Photoreceptor Inner Segment–Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome

S. Baba, M. Sasaki, E. Takeshita, 2017, Neuro-ophthalmology.

Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia

H. Matsuda, M. Sasaki, T. Hashimoto, 2001, Journal of neurology, neurosurgery, and psychiatry.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

N. Matsumoto, H. Saitsu, M. Nakashima, 2018, Brain and Development.

Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.

A. Takahashi, S. Koizumi, S. Nabatame, 2014, Journal of neuropathology and experimental neurology.

Therapeutic effect and [123I]IMP SPECT findings of sodium dichloroacetate in a patient with MELAS

Hiroshi Matsuda, Akira Sudo, Masayuki Sasaki, 2004, Neurology.

Surgical management of cortical dysplasia in infancy and early childhood

A. Takahashi, M. Sasaki, T. Otsuki, 2013, Brain and Development.

Delayed Maturation and Differentiation of Neurons in Focal Cortical Dysplasia With the Transmantle Sign: Analysis of Layer-Specific Marker Expression

A. Takahashi, M. Sasaki, T. Otsuki, 2012, Journal of neuropathology and experimental neurology.

Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: Immunohistochemical considerations

M. Sasaki, T. Otsuki, E. Nakagawa, 2010, Seizure.

Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants

O. Migita, N. Matsumoto, M. Iwasaki, 2023, Brain & development (Tokyo. 1979).

Delineation of the nerve fiber bundles of the infant brain associated with aging using phase difference-enhanced imaging: a preliminary study

H. Matsuda, H. Sugimoto, M. Sasaki, 2020, Japanese Journal of Radiology.

Single-photon emission computed tomography of the brain in autism: effect of the developmental level.

H Matsuda, H. Matsuda, M. Sasaki, 2000, Pediatric neurology.

[Clinical features of congenital myasthenic syndrome in Japan].

A. Okumura, M. Sasaki, Y. Azuma, 2012, No to hattatsu = Brain and development.

Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy

M. Sasaki, E. Nakagawa, N. Sato, 2010, Brain and Development.

Single-Photon Emission Computed Tomography and Electroencephalography Findings in Children with Autism Spectrum Disorders

M. Sasaki, 2013 .

Anterior striatum with dysmorphic neurons associated with the epileptogenesis of focal cortical dysplasia

A. Takahashi, A. Kakita, Hitoshi Takahashi, 2010, Seizure.

Intractable epilepsy due to a rosette‐forming glioneuronal tumor with a dysembryoplastic neuroepithelial background

A. Takahashi, A. Kakita, M. Sasaki, 2018, Neuropathology : official journal of the Japanese Society of Neuropathology.

CD4+CD25high regulatory T cell in childhood ocular myasthenia gravis

M. Sasaki, E. Nakagawa, K. Sugai, 2011, Brain & development (Tokyo. 1979).

A case of intraneural perineurioma presenting with monomelic atrophy in a child

I. Nonaka, M. Sasaki, N. Sato, 2010, Brain and Development.

Cerebral cortical dysplasia: assessment by MRI and SPECT.

H. Matsuda, M. Kaga, M. Sasaki, 2000, Pediatric neurology.

Paroxysmal discharges on EEG in young autistic patients are frequent in frontal regions.

T. Kato, M. Sasaki, M. Fukumizu, 2001, The journal of medical investigation : JMI.

Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy

T. Yonekawa, M. Sasaki, K. Sugai, 2013, Brain and Development.

Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

I. Takamisawa, M. Sasaki, E. Nakagawa, 2012, Developmental medicine and child neurology.

G.P.251 Exon 53 skipping of the dystrophin gene in patients with Duchenne muscular dystrophy by systemic administration of NS-065/NCNP-01: A phase 1, dose escalation, first-in-human study

S. Takeda, M. Sasaki, T. Nagata, 2015, Neuromuscular Disorders.

Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study

A. Takahashi, M. Sasaki, E. Nakagawa, 2013, Brain and Development.

Characterization of ictal slow waves in epileptic spasms.

A. Okumura, M. Sasaki, E. Nakagawa, 2015, Epileptic disorders : international epilepsy journal with videotape.

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

Y. Goto, I. Nonaka, Y. Hayashi, 2017, Neurology: Genetics.

Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report

Y. Goto, M. Sasaki, E. Nakagawa, 2019, Neuropediatrics.

Focal cortical myoclonus in rolandic cortical dysplasia presenting as hemifacial twitching

A. Gunji, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

SISCOM technique with a variable Z score improves detectability of focal cortical dysplasia: a comparative study with MRI

H. Matsuda, K. Kamiya, H. Sugimoto, 2012, Annals of Nuclear Medicine.

Transient water-electrolyte disturbance after hemispherotomy in young infants with epileptic encephalopathy

A. Takahashi, M. Iwasaki, M. Sasaki, 2019, Child's Nervous System.

Novel pathological abnormalities of deep brain structures including dysplastic neurons in anterior striatum associated with focal cortical dysplasia in epilepsy.

A. Takahashi, A. Kakita, Hitoshi Takahashi, 2012, Journal of neurosurgery. Pediatrics.

[Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].

M. Sasaki, E. Nakagawa, K. Sugai, 2010, No to hattatsu = Brain and development.

Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats

M. Sasaki, M. Fukumizu, K. Sugai, 2001, Neurology.

Accelerated myelination along fiber tracts in patients with hemimegalencephaly.

K. Ohtomo, K. Kamiya, M. Ota, 2014, Journal of neuroradiology. Journal de neuroradiologie.

Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery

A. Takahashi, Y. Nakata, M. Sasaki, 2014, Brain and Development.

Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy

H. Matsuda, M. Inagaki, M. Iwasaki, 2019, PloS one.

Augmented startle responses in opsoclonus-myoclonus syndrome

T. Yonekawa, M. Inagaki, M. Sasaki, 2011, Brain & development (Tokyo. 1979).

Case report Augmented startle responses in opsoclonus-myoclonus syndrome

T. Yonekawa, M. Inagaki, M. Sasaki, 2011 .

Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality

N. Matsumoto, H. Mizusawa, S. Miyatake, 2023, Brain and Development.

Single-photon emission CT and MR findings in Klüver-Bucy syndrome after Reye syndrome.

H. Matsuda, H. Ozawa, M. Sasaki, 1997, AJNR. American journal of neuroradiology.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere.

Y. Miki, F. Yamashita, Y. Nakata, 2007, AJNR. American journal of neuroradiology.

Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis

M. Sasaki, H. Sakuma, O. Iwata, 2005, Brain and Development.

Hyperkinetic movement disorder in a child treated by globus pallidus stimulation

M. Sasaki, Hideyuki Nakama, T. Otsuki, 2009, Brain & development (Tokyo. 1979).

Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Y. Goto, M. Sasaki, Hajime Tanaka, 2012, Journal of Neurology.

Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs

Y. Goto, S. Ito, K. Matsuoka, 2013, Journal of Neurology.

SPECT findings in autism spectrum disorders and medically refractory seizures

M. Sasaki, 2015, Epilepsy & Behavior.

Exacerbation of Epileptic Seizures after Japanese Encephalitis Vaccination: A Case Report

M. Sasaki, E. Nakagawa, K. Sugai, 2015 .

Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency

T. Shiihara, Mitsuhiro Kato, M. Sasaki, 2010, Brain and Development.

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).

Y. Goto, I. Nishino, M. Sasaki, 2020, Pediatric neurology.

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

N. Matsumoto, H. Saitsu, M. Ishii, 2013, Brain and Development.

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

H. Matsuda, M. Sasaki, N. Sato, 2020, American Journal of Neuroradiology.

Focal cortical myoclonus in rolandic cortical dysplasia presenting as hemifacial twitching

A. Gunji, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.

A. Takahashi, S. Koizumi, M. Hoshino, 2017, The American journal of pathology.

[A case of congenital hypomyelination neuropathy with type I Chiari malformation and mental retardation].

I. Nonaka, S. Hirano, M. Sasaki, 1997, No to hattatsu = Brain and development.

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers

M. Sasaki, H. Tachimori, E. Nakagawa, 2018, Brain and Development.

3-Hydroxyisobutyric aciduria in two brothers.

M. Sasaki, T. Hashimoto, K. Sugai, 1998, Pediatric neurology.

Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: A pilot study

M. Sasaki, K. Sugai, Yoshiaki Saito, 2011, Brain and Development.

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy

I. Nishino, K. Iwasawa, T. Okuyama, 2018, Brain and Development.

Ictal deafness in drug-resistant MRI-negative epilepsy.

M. Iwasaki, M. Sasaki, E. Nakagawa, 2019, Epileptic disorders : international epilepsy journal with videotape.