Louis Ptáček
#102,451
Most Influential Person Now
Scientist
Louis Ptáček's AcademicInfluence.com Rankings
Louis Ptáčekphilosophy Degrees
Philosophy
#10347
World Rank
#14176
Historical Rank
Logic
#7248
World Rank
#8949
Historical Rank
Louis Ptáčekbiology Degrees
Biology
#12231
World Rank
#15694
Historical Rank
Genetics
#1550
World Rank
#1654
Historical Rank
Download Badge
Philosophy Biology
Louis Ptáček's Degrees
- Doctorate Medicine University of Utah
- PhD Genetics University of Utah
Why Is Louis Ptáček Influential?
(Suggest an Edit or Addition)According to Wikipedia, Louis Ptáček is an American neurologist and professor who contributed greatly to the field of genetics and neuroscience. He was also an HHMI investigator from 1997 to 2018. His chief areas of research include the understanding of inherited Mendelian disorders and circadian rhythm genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics in University of California, San Francisco, School of Medicine. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations.
Louis Ptáček's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome (2001) (1378)
- Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome (2001) (961)
- Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome (2005) (779)
- Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). (2002) (520)
- Dihydropyridine receptor mutations cause hypokalemic periodic paralysis (1994) (413)
- Lamin B1 duplications cause autosomal dominant leukodystrophy (2006) (389)
- Identification of a mutation in the gene causing hyperkalemic periodic paralysis (1991) (376)
- Modeling of a Human Circadian Mutation Yields Insights into Clock Regulation by PER2 (2007) (361)
- Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. (1998) (347)
- Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features (1994) (338)
- Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia (2004) (332)
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (2012) (329)
- Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (2003) (315)
- The primary periodic paralyses: diagnosis, pathogenesis and treatment. (2006) (305)
- MiRP2 Forms Potassium Channels in Skeletal Muscle with Kv3.4 and Is Associated with Periodic Paralysis (2001) (297)
- Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations: Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype (2005) (268)
- Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis (2010) (254)
- Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7 (2001) (253)
- Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita (1992) (244)
- Correlating phenotype and genotype in the periodic paralyses (2004) (236)
- Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (2012) (231)
- Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. (1996) (225)
- Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. (1994) (206)
- Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock. (2013) (205)
- Dicer ablation in oligodendrocytes provokes neuronal impairment in mice (2009) (204)
- A new locus for hemiplegic migraine maps to chromosome 1q31 (1997) (198)
- Andersen's syndrome: A distinct periodic paralysis (1997) (190)
- A Novel Gene Causing a Mendelian Audiogenic Mouse Epilepsy (2001) (186)
- PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome (2003) (176)
- The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. (2004) (172)
- Casein Kinase Iδ Mutations in Familial Migraine and Advanced Sleep Phase (2013) (165)
- Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice (2002) (164)
- Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome* (2003) (159)
- Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system (1997) (157)
- Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation (2004) (156)
- Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis (1994) (153)
- Randomized trials of dichlorphenamide in the periodic paralyses (2000) (151)
- Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. (1991) (148)
- Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p (1995) (148)
- Guidelines for Genome-Scale Analysis of Biological Rhythms (2017) (146)
- Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. (2001) (140)
- A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures (2002) (139)
- Genotype–phenotype correlation of paroxysmal nonkinesigenic dyskinesia (2007) (138)
- Autosomal dominant cerebellar ataxia with retinal degeneration (1994) (133)
- The intricate dance of post-translational modifications in the rhythm of life (2016) (130)
- Genetics and physiology of the myotonic muscle disorders. (1993) (127)
- Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis (1993) (126)
- A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait (2016) (120)
- A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. (1996) (117)
- Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. (2015) (112)
- An expanded CAG repeat sequence in spinocerebellar ataxia type 7. (1996) (107)
- Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24 (1999) (105)
- Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2 (2006) (103)
- Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus (2006) (103)
- Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. (1998) (102)
- An inwardly rectifying K+ channel is required for patterning (2012) (102)
- Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. (2000) (101)
- Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita (1996) (100)
- Andersen‐Tawil syndrome: Prospective cohort analysis and expansion of the phenotype (2006) (94)
- MicroRNA-23a promotes myelination in the central nervous system (2013) (94)
- Genotype-phenotype correlations of DHP receptor α 1-subunit gene mutations causing hypokalemic periodic paralysis (1997) (91)
- Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity (2004) (90)
- Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation (1999) (89)
- A Cryptochrome 2 mutation yields advanced sleep phase in humans (2016) (88)
- PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine (2012) (87)
- Proteolytic Cleavage of Ataxin-7 by Caspase-7 Modulates Cellular Toxicity and Transcriptional Dysregulation* (2007) (84)
- Circadian Rhythm Gene Period 3 Is an Inhibitor of the Adipocyte Cell Fate* (2011) (82)
- Deletions in CCM2 are a common cause of cerebral cavernous malformations. (2007) (82)
- Paroxysmal kinesigenic dyskinesia and infantile convulsions (2000) (80)
- Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. (2003) (80)
- Sodium channel inactivation defects are associated with acetazolamide‐exacerbated hypokalemic periodic paralysis (2001) (75)
- Genetic basis of human circadian rhythm disorders (2013) (75)
- Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5 (2002) (74)
- The familial periodic paralyses and nondystrophic myotonias. (1998) (71)
- Episodic Neurological Channelopathies (2010) (69)
- Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. (1991) (68)
- Paramyotonia congenita: Abnormal short exercise test, and improvement after mexiletine therapy (1994) (65)
- Linkage of atypical myotonia congenita to a sodium channel locus (1992) (64)
- Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypes (2005) (64)
- A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies (1996) (62)
- The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. (2005) (60)
- Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (2015) (60)
- Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. (2001) (59)
- Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. (2013) (58)
- COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo (2009) (56)
- FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice. (2017) (56)
- Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita (2000) (55)
- Genetics of the human circadian clock and sleep homeostat (2019) (52)
- Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans (1999) (52)
- Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. (2012) (51)
- miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin (2012) (50)
- Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability (2011) (49)
- Channelopathies: Episodic Disorders of the Nervous System (2001) (48)
- Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C (2013) (48)
- Flecainide Suppresses Bidirectional Ventricular Tachycardia and Reverses Tachycardia‐Induced Cardiomyopathy in Andersen‐Tawil Syndrome (2007) (46)
- The place of migraine as a channelopathy. (1998) (46)
- A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. (2000) (45)
- Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. (1997) (43)
- Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients (2001) (43)
- Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (IN10-2.005) (2012) (42)
- Dual roles of FBXL3 in the mammalian circadian feedback loops are important for period determination and robustness of the clock (2013) (41)
- Diversity of human clock genotypes and consequences. (2013) (39)
- Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis (2015) (39)
- Mechanism of Inverted Activation of ClC-1 Channels Caused by a Novel Myotonia Congenita Mutation* (2000) (39)
- DEC2 modulates orexin expression and regulates sleep (2018) (39)
- A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors (2019) (39)
- Episodic movement disorders as channelopathies (2000) (39)
- Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000. (2001) (39)
- Kir2.6 Regulates the Surface Expression of Kir2.x Inward Rectifier Potassium Channels* (2011) (38)
- Genetic mapping of a locus (mass1) causing audiogenic seizures in mice. (1998) (35)
- Localization of the giant axonal neuropathy gene to chromosome 16q24 (1998) (35)
- p75 Neurotrophin Receptor Is a Clock Gene That Regulates Oscillatory Components of Circadian and Metabolic Networks (2013) (35)
- TIMELESS mutation alters phase responsiveness and causes advanced sleep phase (2019) (33)
- Novel insights from genetic and molecular characterization of the human clock. (2007) (32)
- Modeling of IK1 mutations in human left ventricular myocytes and tissue. (2007) (32)
- Microfluidic droplet enrichment for targeted sequencing (2015) (32)
- Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation (2019) (32)
- Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs (2014) (31)
- c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse (2004) (30)
- Genetic insights on sleep schedules: this time, it's PERsonal. (2012) (29)
- Andersen–Tawil syndrome (2006) (29)
- Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (1999) (27)
- Ion channel diseases: episodic disorders of the nervous system. (1999) (27)
- Casein Kinase 1 Proteomics Reveal Prohibitin 2 Function in Molecular Clock (2012) (27)
- Familial adult myoclonic epilepsy (FAME). (2005) (27)
- Genetic association studies of the chromosome 15 GABA‐A receptor cluster in migraine with aura (2008) (26)
- Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease (2004) (26)
- PKCγ participates in food entrainment by regulating BMAL1 (2012) (26)
- Adult-Onset Autosomal Dominant Leukodystrophy: Linking Nuclear Envelope to Myelin (2011) (25)
- Human genetics and sleep behavior (2017) (24)
- A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (2003) (23)
- STROBOSCOPIC-INDUCED SEIZURE DISCHARGES. MODIFICATION BY EXTINCTION TECHNIQUES. (1964) (23)
- Episodic neurologic disorders: syndromes, genes, and mechanisms. (2013) (23)
- Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia (2012) (23)
- Extreme morning chronotypes are often familial and not exceedingly rare: the estimated prevalence of advanced sleep phase, familial advanced sleep phase, and advanced sleep-wake phase disorder in a sleep clinic population. (2019) (23)
- Nuclear envelope protein MAN1 regulates clock through BMAL1 (2014) (22)
- Genetics of human sleep behavioral phenotypes. (2015) (22)
- Human circadian variations. (2021) (22)
- Channels and disease: past, present, and future. (2004) (22)
- Familial cortical myoclonus with a mutation in NOL3 (2012) (21)
- The genetics of the human circadian clock. (2011) (21)
- Trochlear nerve palsy following minor head trauma. A sign of structural disorder. (1988) (21)
- Anesthetic management of familial hypokalemic periodic paralysis during parturition. (1999) (20)
- Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement (2015) (19)
- Episodic disorders: channelopathies and beyond. (2015) (18)
- In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. (1995) (18)
- Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait (2020) (17)
- Periodic paralyses and nondystrophic myotonias. (2002) (16)
- Understanding the Role of Dicer in Astrocyte Development (2015) (15)
- Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. (1998) (14)
- Ion channel Shake-down (1994) (13)
- Respite care for families of children with severe handicaps: An evaluation study of parent satisfaction (1982) (13)
- Faculty Opinions recommendation of Obesity and metabolic syndrome in circadian Clock mutant mice. (2005) (13)
- THE PRESENCE OF LACTULOSE IN THE URINE OF INFANTS WITH LACTOSURIA. (1963) (13)
- Auditory Deficits Associated with the Frings Mgr1 (Mass1) Mutation in Mice (2005) (12)
- Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function (2013) (11)
- The periodic paralyses. (1992) (11)
- Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome (2010) (11)
- Channelopathies: episodic disorders of the nervous system. (2002) (10)
- Disorders of sleep and circadian rhythms. (2018) (10)
- Paroxysmal Non-Kinesigenic Dyskinesia Caused by the Mutation of MR-1 in a Large Polish Kindred (2008) (10)
- Solving the mystery of human sleep schedules one mutation at a time (2013) (10)
- Evidence of genetic heterogeneity among the nondystrophic myotonias (1992) (10)
- Episodic and electrical nervous system disorders caused by nonchannel genes. (2015) (9)
- Immunological studies on an aberrant form of ataxia telangiectasia. (1977) (8)
- Human recombination rates are increased around accelerated conserved regions - evidence for continued selection? (2007) (8)
- Mutations of sodium channels in periodic paralysis (1999) (8)
- Principles and Practice of Geriatric Sleep Medicine: Circadian rhythm dysregulation in the elderly: advanced sleep phase syndrome (2009) (7)
- Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease (1998) (7)
- Fetal anticonvulsant drug exposure: a population based study. (1986) (7)
- Familial Periodic Paralysis (1996) (7)
- Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (2015) (7)
- Stroboscopic induced seizures altered by extinction techniques. (1964) (7)
- Molecular biology of episodic movement disorders. (2002) (6)
- Clinic–based study of family history of vascular risk factors and migraine (2005) (6)
- A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family (2020) (6)
- Episodic movement disorders as channelopathies. (2000) (5)
- Microglia are involved in the protection of memories formed during sleep deprivation (2021) (5)
- What's new in epilepsy genetics? (2003) (5)
- The dominant form of vanishing white matter–like leukoencephalopathy represents autosomal dominant leukodystrophy (2006) (5)
- Familial natural short sleep mutations reduce Alzheimer pathology in mice (2022) (5)
- Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders (2007) (5)
- THE CORNELIA DE LANGE SYNDROME. (1963) (4)
- Ligand-gated ion channelopathies (2000) (4)
- Developing Common Data Elements (CDEs) for headache clinical research: A National Institute of Neurological Disorders and Stroke (NINDS), NIH initiative (2012) (4)
- Striatal Indirect Pathway Dysfunction Underlies Motor Deficits in a Mouse Model of Paroxysmal Dyskinesia (2022) (3)
- Erratum: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry (PLoS ONE (2015) 10:8 (e0137370) (doi:10.1371/journal.pone.0137370)) (2015) (3)
- Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy (2007) (3)
- Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures: Improving Sleep and Seizures, Themes for Future Research (2021) (3)
- Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian Paramyotonia Congenita (PC) family (1994) (2)
- Channelopathies: Episodic and Electrical Disorders of the Nervous System (2008) (2)
- Genetic insights on sleep schedules: (2012) (2)
- INCIDENCE OF DEVICE THERAPY AND COMPLICATIONS IN PATIENTS WITH ANDERSEN-TAWIL SYNDROME WITH ICDS (2011) (2)
- 0153 Extreme Morning Chronotypes Are Often Familial And Not Exceedingly Rare: The Estimated Prevalence Of Familial Advanced Sleep Phase (FASP) In A Sleep Clinic Population (2019) (2)
- Paramyotonia Congenita andHyperkalemic Periodic Paralysis MaptotheSameSodium-Channel GeneLocus (1991) (1)
- No Gastrointestinal Dysmotility in Transgenic Mouse Models of Migraine (2019) (1)
- In Memoriam: Louis John Ptáček, Sr, MD (1929-2006) (2009) (1)
- Epilepsies as channelopathies (2001) (1)
- Genetic approaches to human behavior. (2005) (1)
- An excitatory peri-tegmental reticular nucleus circuit for wake maintenance (2022) (1)
- Faculty Opinions recommendation of Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. (2002) (1)
- The CK1δ T44A Mutation Affects Nociceptive Activation of the Trigeminocervical Complex in an In Vivo Model of Migraine (P1.258) (2014) (1)
- Chronic fatigue syndrome and channelopathies. (2000) (1)
- 850-3 ECG characteristics in andersen syndrome patients with KCNJ2 mutations (2004) (1)
- 388 Familial natural short sleepers have greater resilience than unaffected family members (2021) (0)
- Faculty Opinions recommendation of Novel insights into the regulation of the timeless protein. (2003) (0)
- Developing the field of neurogenetics (2017) (0)
- A MOUSE MODEL OF PAROXYSMAL NON-KINESIGENIC DYSKINESIA (PNKD) (2006) (0)
- PNKD Functions in RIM-Dependent Pathway To Regulate Exocytosis (IN10-2.004) (2012) (0)
- S-6-4 Myotonia and periodic paralysis: implications of molecular defects for treatment (1995) (0)
- Molecular Genetics of Human Sleep Behaviors (2019) (0)
- Mutant β1-adrenergic receptor improves REM sleep and ameliorates tau accumulation in a mouse model of tauopathy (2023) (0)
- R E V I E W A R T I C L E The primary periodic paralyses: diagnosis, pathogenesis and treatment (2005) (0)
- Welcoming articles on genotype-dependent clinical features and diagnostics (2021) (0)
- Approaching Inherited Disease on a Genomic Scale (2005) (0)
- The whole is greater than the sum of the parts. (2021) (0)
- Abstract 2700: KCNJ2-Specific ECG Abnormalities in Type 1 Andersen-Tawil Syndrome: The Enlarged U Wave, Prolonged QU Interval and Left Ventricular Arrhythmias (2006) (0)
- Autosomal dominant spinocerebellar atrophy with retinal degeneration. (1995) (0)
- Inhibitor of the Adipocyte Cell Fate Circadian Rhythm Gene Period 3 Is an Gene Regulation (2013) (0)
- Faculty Opinions recommendation of Dec1 and Dec2 are regulators of the mammalian molecular clock. (2002) (0)
- GENETICS OF EPILEPSY (2005) (0)
- Report of a Turkish girl with Andersen-Tawil syndrome (2006) (0)
- Faculty Opinions recommendation of Drosophila doubletime mutations which either shorten or lengthen the period of circadian rhythms decrease the protein kinase activity of casein kinase I. (2004) (0)
- Reply (1994) (0)
- Decision letter: Cold-inducible RNA-binding protein (CIRBP) adjusts clock-gene expression and REM-sleep recovery following sleep deprivation (2018) (0)
- Channel surfing. (2002) (0)
- S-6-2 Molecular basis of the periodic paralyses (1995) (0)
- The Cerebellum and its Disorders: Spinocerebellar ataxia type 4 (2001) (0)
- Faculty Opinions recommendation of Dissecting the functions of the mammalian clock protein BMAL1 by tissue-specific rescue in mice. (2006) (0)
- NON-MIGRAINE RELATED PAIN BEHAVIOURS IN A TRANSGENIC "MIGRAINE MOUSE" WITH CIRCADIAN DISRUPTION (2017) (0)
- Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. (1999) (0)
- Reply (2006) (0)
- The Genetic Basis of Sleep and Sleep Disorders: Genetics of familial advanced sleep phase (2013) (0)
- myotubesin skeletal muscle are revealed in human Mechanisms underlying Andersen's syndrome (2011) (0)
- Decision letter: A cell autonomous torsinA requirement for cholinergic neuron survival and motor control (2018) (0)
- Faculty Opinions recommendation of A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo. (2005) (0)
- KCNJ2 and the Andersen-Tawil Syndrome (2016) (0)
- Raymond Leslie White (1943–2018) (2019) (0)
- P38 Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel (2012) (0)
- THE PRESENCE OF LACTULOSE IN THE URINE OF INFANTS WITH LACTOSURIA (1963) (0)
- Genetic and biological factors in sleep (2022) (0)
- Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs (2014) (0)
- List of contributors (2020) (0)
- Erratum (2001) (0)
- The Genetic Regulation of Human Sleep-Wake Rhythms and Patterns (2019) (0)
- Developing the field of neurogenetics (2017) (0)
- Dopamine Dysregulation in a Mouse Model of Paroxysmal Non-Kinesigenic Dyskinesia (IN6-1.003) (2012) (0)
- Faculty Opinions recommendation of A clock gene, period, plays a key role in long-term memory formation in Drosophila. (2004) (0)
- Molecular Characterization of Human Sleep Variants (2011) (0)
- Louis Ptáček receives the 2015 ASCI/Stanley J. Korsmeyer Award. Interview by Sarah Jackson. (2015) (0)
- target SLC 45 A 3 regulate the lipid metabolism of oligodendrocytes and myelin Permalink (2012) (0)
- AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIA: Olivopontocerebellar Atrophy Locus Heterogeneity Reflects Phenotypic Variation (1993) (0)
- Author response: A Cryptochrome 2 mutation yields advanced sleep phase in humans (2016) (0)
- Muscle channelopathies: periodic paralyses and nondystrophic myotonias (2020) (0)
- Faculty Opinions recommendation of DNA damage induced by polyglutamine-expanded proteins. (2003) (0)
This paper list is powered by the following services:
Other Resources About Louis Ptáček
What Schools Are Affiliated With Louis Ptáček?
Louis Ptáček is affiliated with the following schools:
