TY  - JOUR
AB  - BACKGROUND AND OBJECTIVES: Exome sequencing (ES) is increasingly used in the diagnostic workup of epilepsies. While its utility has been extensively demonstrated in children, its role in adults remains to be defined. In this study, we evaluate the outcomes of a holistic exome-based approach in adults with epilepsy. METHODS: We included 106 adults with epilepsy and a presumed genetic etiology between January 2015 and December 2023 at the Medical University of Vienna, Austria. Diagnostic ES, including copy number variation (CNV) and mitochondrial analyses, was performed. We report on diagnostic outcomes, phenotype expansions, and research findings. Furthermore, we compared the diagnostic outcomes with 3 comprehensive gene panels. RESULTS: In our cohort, the diagnostic yield was 30.2%, outperforming all 3 simulated gene panels. A developmental and epileptic encephalopathy phenotype was associated with receiving a genetic diagnosis. Overall, 27 distinct molecular etiologies were identified. Eight patients had pathogenic CNVs, and 2 had mitochondrial DNA variants. Molecular diagnoses had potential clinical implications in 8 of 32 solved cases (25%), which were eventually exerted in 5 patients (15.6%). Tailored treatment changes were successfully applied in SCN1A-related epilepsy (discontinuation of sodium channel blockers) and GLUT1 deficiency (ketogenic diet). Three patients with mitochondrial diseases were referred for preventive screening investigations after the genetic diagnosis. Our findings expand the clinical spectrum of 3 known epilepsy genes. In addition, explorative variant prioritization identified heterozygous truncating variants in CLASP1 in 2 unrelated patients with focal epilepsy, suggesting it as a candidate gene. DISCUSSION: Our study strongly supports the use of holistic genetic approaches, encompassing CNV and mitochondrial analyses, in adults with epilepsy. Similar to pediatric cohorts, results may inform clinical care. Moreover, we report on phenotype expansions and a candidate gene discovery.
AU  - Krenn, M.*
AU  - Wagner, M.
AU  - Trimmel, K.*
AU  - Bonelli, S.*
AU  - Rath, J.*
AU  - Jud, J.*
AU  - Schwarz, M.*
AU  - Milenkovic, I.*
AU  - Weng, R.*
AU  - Koren, J.*
AU  - Baumgartner, C.*
AU  - Brugger, M.*
AU  - Brunet, T.*
AU  - Graf, E.*
AU  - Winkelmann, J.
AU  - Aull-Watschinger, S.*
AU  - Zimprich, F.*
AU  - Pataraia, E.*
C1  - 74364
C2  - 57271
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Holistic exome-based genetic testing in adults with epilepsy.
JO  - Neurol. Genet.
VL  - 11
IS  - 3
PB  - Lippincott Williams & Wilkins
PY  - 2025
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - OBJECTIVES: Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in PURA cause the neurodevelopmental disorder PURA syndrome that has a variable phenotype but typically comprises moderate-to-severe global developmental delay, intellectual disability, early-onset hypotonia and hypothermia, epilepsy, feeding difficulties, movement disorders, and subtle facial dysmorphism. Speech is reportedly absent in most, but the specific linguistic phenotype is not well described. METHODS: We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID. RESULTS: The novel PURA c.296G>T (p.Arg99Leu) pathogenic missense variant segregated in the female proband and her affected mother. The proband had dysarthria; phonological disorder; and severe receptive and expressive language impairment, borderline intellect, attention difficulties, oropharyngeal dysmotility, and dysmorphic facial features. Her mother had dysarthria, moderate receptive language impairment, and borderline intellect. Both the proband and her mother completed mainstream schooling with classroom support. DISCUSSION: This is the first inherited PURA pathogenic germline variant in over 600 unrelated families documented on ClinVar or reported in the literature. PURA testing should be considered in families with primary speech disorder and borderline intellectual disability, given the specific genetic counseling implications.
AU  - Hildebrand, M.S.*
AU  - Braden, R.O.*
AU  - Lauretta, M.L.*
AU  - Kaspi, A.*
AU  - Leventer, R.J.*
AU  - Anderson, M.C.*
AU  - Goel, H.*
AU  - Bahlo, M.*
AU  - Scheffer, I.E.*
AU  - Amor, D.J.*
AU  - Janowski, R.
AU  - Niessing, D.
AU  - Morgan, A.T.*
C1  - 71461
C2  - 56196
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Inherited PURA pathogenic variant associated with a mild neurodevelopmental disorder.
JO  - Neurol. Genet.
VL  - 10
IS  - 5
PB  - Lippincott Williams & Wilkins
PY  - 2024
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - OBJECTIVE: The gene MT-TF encodes the mitochondrial tRNA of phenylalanine (tRNAphe). Its variations have been described as extremely rare etiologies of a variety of mitochondrial phenotypes. METHODS: By means of whole-exome sequencing (WES), we detected a novel likely causative MT-TF variant (m.610T>C) in a family presenting with a combined movement disorder and epilepsy phenotype. The variant was present at 97% heteroplasmy in the peripheral blood and in a homoplasmic state in skin fibroblast-derived DNA. RESULTS: The inaugural manifestation in the index patient was new-onset refractory myoclonic status epilepticus (NORSE) at the age of 29 years. Her son presented later with developmental regression and myoclonic epilepsy. On the beginning of valproate because of ongoing myoclonic seizures, the index patient developed a generalized brain edema requiring bilateral craniotomy. In the course of the disease, epileptic manifestations abated, and both patients developed a severe movement disorder phenotype with prominent spastic-dystonic features. Both patients did not display any further sign of mitochondrial disease. DISCUSSION: Our report expands the clinicogenetic background of tRNAphe disease spectrum and highlights pitfalls in the diagnostics and management of mitochondrial epilepsy. The present findings advocate the introduction of rapid genetic testing in the diagnostic flow chart of NORSE in adults.
AU  - Indelicato, E.*
AU  - Pfeilstetter, J.*
AU  - Zech, M.
AU  - Unterberger, I.*
AU  - Wanschitz, J.*
AU  - Berweck, S.*
AU  - Boesch, S.*
C1  - 67674
C2  - 53981
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - New-onset refractory status epilepticus due to a novel MT-TF variant: Time for acute genetic testing before treatment?
JO  - Neurol. Genet.
VL  - 9
IS  - 2
PB  - Lippincott Williams & Wilkins
PY  - 2023
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Objective Clinical, neuroimaging, and genetic characterization of 3 patients with LINS1-associated developmental regression, intellectual disability, dysmorphism, and further neurologic deficits. Methods Three affected brothers from a consanguineous family from Afghanistan, their 2 healthy siblings, and both parents were all assessed in the clinic. General and neurologic examination, expert dysmorphology examination, and 3T brain MRI were performed. Whole-exome sequencing was performed for the 3 affected brothers, followed by Sanger sequencing in all available family members. Results The index patient and his 2 affected brothers presented a complex neurologic syndrome with similar features but marked intrafamilial phenotypical variability, including varying degrees of cognitive impairment, speech impairment, dystonia, abnormal eye movements, and dysmorphic features. All 3 affected brothers are homozygous for a novel, pathogenic frameshift mutation in LINS1, c.1672_1679del, and p.Gly558Profs*22, whereas both parents and healthy siblings are heterozygous for the mutation. No major brain malformations were evident in 3T brain MRI of the affected brothers. Conclusion This consanguineous family with a novel mutation expands the spectrum of LINS1-associated disorder to include developmental regression, oculomotor signs, and dystonia, previously not described in the published 9 cases of this rare disorder. The 3T-MRI data from our 3 patients and review of the neuroimaging data in the literature showed unspecific brain MRI changes. LINS1 protein is a known modulating factor of the Wnt signaling pathway, with important roles in organogenesis including of the cerebral cortex. More research is warranted to disentangle the underlying pathophysiologic mechanisms, leading to cognitive impairment and the complex phenotype of LINS1-associated disorder.
AU  - Neuhofer, C.M.*
AU  - Catarino, C.B.*
AU  - Schmidt, H.*
AU  - Seelos, K.*
AU  - Alhaddad, B.
AU  - Haack, T.B.
AU  - Klopstock, T.*
C1  - 60530
C2  - 49332
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - LINS1-associated neurodevelopmental disorder family with novel mutation expands the phenotypic spectrum.
JO  - Neurol. Genet.
VL  - 6
IS  - 5
PB  - Lippincott Williams & Wilkins
PY  - 2020
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD).MethodsWe performed exome sequencing (ES) in a patient with the clinical diagnosis of complex hereditary spastic paraparesis. The patient was examined neurologically, including functional rating scales. We performed ophthalmologic examinations and metabolic testing.ResultsA 41-year-old patient presented with slowly progressive lower limb spasticity combined with optic atrophy. He was clinically diagnosed with complex hereditary spastic paraparesis. The initial panel diagnostics did not reveal the disease-causing variant; therefore, ES was performed. ES revealed biallelic pathogenic variants in the BTD gene leading to the genetic diagnosis of BD. BD is an autosomal recessive metabolic disorder causing a broad spectrum of neurologic symptoms, optic atrophy, and dermatologic abnormalities. When treatment is initiated in time, symptoms can be prevented or reversed by biotin supplementation. After diagnosis in our patient, biotin supplementation was started. One year after the onset of therapy, symptoms remained stable with slight improvement of sensory deficits.ConclusionsThese findings expand the genetic spectrum of the clinical diagnosis of complex hereditary spastic paraparesis by a treatable disease. Today, most children with BD should have been identified via newborn screening to start biotin supplementation before the onset of symptoms. However, adult patients and those born in countries without newborn screening programs for BD are at risk of being missed. Therapeutic success depends on early diagnosis and presymptomatic treatment.
AU  - Radelfahr, F.*
AU  - Riedhammer, K.M.*
AU  - Keidel, L.F.*
AU  - Gramer, G.*
AU  - Meitinger, T.
AU  - Klopstock, T.*
AU  - Wagner, M.
C1  - 61160
C2  - 49652
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
JO  - Neurol. Genet.
VL  - 6
IS  - 6
PB  - Lippincott Williams & Wilkins
PY  - 2020
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - ObjectiveTo delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort.MethodsWe analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.ResultsWe identified 113 clinically affected and 19 asymptomatic individuals with a known pathogenic MT-ATP6 mutation. The most frequent mutations were m.8993 T > G (53/132, 40%), m.8993 T > C (30/132, 23%), m.9176 T > C (30/132, 23%), and m.9185 T > C (12/132, 9%). The degree of heteroplasmy was high both in affected (mean 95%, range 20%-100%) and unaffected individuals (mean 73%, range 20%-100%). Age at onset ranged from prenatal to the age of 75 years, but almost half of the patients (49/103, 48%) became symptomatic before their first birthday. In 28 deceased patients, the median age of death was 14 months. The most frequent symptoms were ataxia (81%), cognitive dysfunction (49%), neuropathy (48%), seizures (37%), and retinopathy (14%). A diagnosis of Leigh syndrome was made in 55% of patients, whereas the classic syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP) was rare (8%).ConclusionsIn this currently largest series of patients with mitochondrial MT-ATP6 mutations, the phenotypic spectrum ranged from asymptomatic to early onset multisystemic neurodegeneration. The degree of mutation heteroplasmy did not reliably predict disease severity. Leigh syndrome was found in more than half of the patients, whereas classic NARP syndrome was rare. Oligosymptomatic presentations were rather frequent in adult-onset patients, indicating the need to include MT-ATP6 mutations in the differential diagnosis of both ataxias and neuropathies.
AU  - Stendel, C.*
AU  - Neuhofer, C.*
AU  - Floride, E.*
AU  - Yuqing, S.*
AU  - Ganetzky, R.D.*
AU  - Park, J.*
AU  - Freisinger, P.*
AU  - Kornblum, C.*
AU  - Kleinle, S.*
AU  - Schöls, L.*
AU  - Distelmaier, F.*
AU  - Stettner, G.M.*
AU  - Büchner, B.*
AU  - Falk, M.J.*
AU  - Mayr, J.A.*
AU  - Synofzik, M.*
AU  - Abicht, A.*
AU  - Haack, T.B.*
AU  - Prokisch, H.
AU  - Wortmann, S.B.
AU  - Murayama, K.*
AU  - Fang, F.*
AU  - Klopstock, T.*
C1  - 58673
C2  - 48593
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Delineating MT-ATP6-associated disease.
JO  - Neurol. Genet.
VL  - 6
IS  - 1
PB  - Lippincott Williams & Wilkins
PY  - 2020
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Computer modeling was used to assess changes on protein folding. Results Biallelic pathogenic variants in QARS cause a triad of progressive microcephaly, moderate to severe developmental delay, and early-onset epilepsy. Microcephaly was present at birth in 65%, and in all patients at follow-up. Moderate (14%) or severe (73%) developmental delay was characteristic, with no achievement of sitting (85%), walking (86%), or talking (90%). Additional features included irritability (91%), hypertonia/spasticity (75%), hypotonia (83%), stereotypic movements (75%), and short stature (56%). Seventy-nine percent had pharmacoresistant epilepsy with mainly neonatal onset. Characteristic cranial MRI findings include early-onset progressive atrophy of cerebral cortex (89%) and cerebellum (61%), enlargement of ventricles (95%), and age-dependent delayed myelination (88%). A small subset of patients displayed a less severe phenotype. Conclusions These data revealed first genotype-phenotype associations and may serve for improved interpretation of new QARS variants and well-founded genetic counseling.
AU  - Johannesen, K.*
AU  - Mitter, D.*
AU  - Janowski, R.
AU  - Roth, C.*
AU  - Toulouse, J.*
AU  - Poulat, A.*
AU  - Ville, D.M.*
AU  - Chatron, N.*
AU  - Brilstra, E.*
AU  - Geleijns, K.*
AU  - Born, A.P.*
AU  - McLean, S.*
AU  - Nugent, K.*
AU  - Baynam, G.*
AU  - Poulton, C.*
AU  - Dreyer, L.*
AU  - Gration, D.*
AU  - Schulz, S.*
AU  - Dieckmann, A.*
AU  - Helbig, K.L.*
AU  - Merkenschlager, A.*
AU  - Jamra, R.*
AU  - Finck, A.*
AU  - Gardella, E.*
AU  - Hjalgrim, H.*
AU  - Mirzaa, G.*
AU  - Brancati, F.*
AU  - Bierhals, T.*
AU  - Denecke, J.*
AU  - Hempel, M.*
AU  - Lemke, J.R.*
AU  - Rubboli, G.*
AU  - Muschke, P.*
AU  - Guerrini, R.*
AU  - Vetro, A.*
AU  - Niessing, D.
AU  - Lesca, G.*
AU  - Moller, R.S.*
C1  - 58480
C2  - 48092
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
JO  - Neurol. Genet.
VL  - 5
IS  - 6
PB  - Lippincott Williams & Wilkins
PY  - 2019
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in ATM, encoding a serine-threonine protein kinase that is crucially involved in DNA repair mechanisms. Clinical features include cerebellar degeneration, telangiectasia, immunodeficiency, and an increased risk of malignancies.(1) The classic form of A-T is characterized by infantile, rapidly progressing neurodegeneration and can be differentiated from variant A-T with a comparably milder disease course.(2,3) However, only a tiny fraction of patients first present with symptoms in adulthood.(4) The broad phenotypic spectrum of A-T now becomes gradually disentangled owing to the increased availability of comprehensive genetic testing.(5)
AU  - Krenn, M.*
AU  - Milenkovic, I.*
AU  - Eckstein, G.
AU  - Zimprich, F.*
AU  - Meitinger, T.
AU  - Foki, T.*
AU  - Wagner, M.
C1  - 56927
C2  - 47334
CY  - Two Commerce Sq, 2001 Market St, Philadelphia, Pa 19103 Usa
TI  - Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
JO  - Neurol. Genet.
VL  - 5
IS  - 4
PB  - Lippincott Williams & Wilkins
PY  - 2019
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Objective: We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. Methods: We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors. Results: We observed a strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson r = 0.77 and 0.76, respectively, across SNPs with p < 4.4 × 10-4 in the previous AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio [OR] per SD = 1.40, p = 1.45 × 10-48), explaining ∼20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per SD = 1.07, p = 0.004), but no other primary stroke subtypes (all p > 0.1). Conclusions: Genetic risk of AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.
AU  - Pulit, S.L.*
AU  - Weng, L.C.*
AU  - McArdle, P.F.*
AU  - Trinquart, L.*
AU  - Choi, S.H.*
AU  - Mitchell, B.D.*
AU  - Rosand, J.*
AU  - de Bakker, P.I.W.*
AU  - Benjamin, E.J.*
AU  - Ellinor, P.T.*
AU  - Kittner, S.J.*
AU  - Lubitz, S.A.*
AU  - Anderson, C.D.*
AU  - AFGen Consortium (Roselli, C.
AU  - Müller-Nurasyid, M.
AU  - Perz, S.
AU  - Waldenberger, M.
AU  - Lichtner, P.
AU  - Peters, A.
AU  - Kriebel, J.)
C1  - 56149
C2  - 46852
TI  - Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes.
JO  - Neurol. Genet.
VL  - 4
IS  - 6
PY  - 2018
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Objective To ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS. Methods We used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In addition, we performed RNA and protein expression studies, enzymatic activity assays, immunohistochemistry, and targeted sequencing of further MS cases from Austria, Germany, Canada and Jordan. Results In this study, we describe the identification of a homozygous missense mutation (c.82T>G, p.Cys28Gly) in the tripeptidyl peptidase II (TPP2) gene in all 3 affected siblings of the family. Sequencing of all TPP2-coding exons in 826 MS cases identified one further homozygous missense variant (c.2027C>T, p.Thr676Ile) in a Jordanian MS patient. TPP2 protein expression in whole blood was reduced in the affected siblings. In contrast, TPP2 protein expression in postmortem brain tissue from MS patients without TPP2 mutations was highly upregulated. Conclusions The homozygous TPP2 mutation (p.Cys28Gly) is likely responsible for the inflammation phenotype in this family. TPP2 is an ubiquitously expressed serine peptidase that removes tripeptides from the N-terminal end of longer peptides. TPP2 is involved in various biological processes including the destruction of major histocompatibility complex Class I epitopes. Recessive loss-of-function mutations in TPP2 were described in patients with Evans syndrome, a rare autoimmune disease affecting the hematopoietic system. Based on the gene expression results in our MS autopsy brain samples, we further suggest that TPP2 may play a broader role in the inflammatory process in MS.
AU  - Reinthaler, E.M.*
AU  - Graf, E.
AU  - Zrzavy, T.*
AU  - Wieland, T.
AU  - Hotzy, C.*
AU  - Kopecky, C.*
AU  - Pferschy, S.*
AU  - Schmied, C.*
AU  - Leutmezer, F.*
AU  - Keilani, M.*
AU  - Lill, C.M.*
AU  - Hoffjan, S.*
AU  - Epplen, J.T.*
AU  - Zettl, U.K.*
AU  - Hecker, M.*
AU  - Deutschländer, A.*
AU  - Meuth, S.G.*
AU  - Ahram, M.*
AU  - Mustafa, B.*
AU  - El-Khateeb, M.*
AU  - Vilariño-Güell, C.*
AU  - Sadovnick, A.D.*
AU  - Zimprich, F.*
AU  - Tomkinson, B.*
AU  - Strom, T.M.
AU  - Kristoferitsch, W.*
AU  - Lassmann, H.*
AU  - Zimprich, A.*
C1  - 54930
C2  - 45973
TI  - TPP2 mutation associated with sterile brain inflammation mimicking MS.
JO  - Neurol. Genet.
VL  - 4
IS  - 6
PY  - 2018
SN  - 2376-7839
ER  - 

TY  - JOUR
AB  - Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.(1) Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.(2) reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B.
AU  - Lesage, S.*
AU  - Bras, J.*
AU  - Cormier-Dequaire, F.*
AU  - Condroyer, C.*
AU  - Nicolas, A.*
AU  - Darwent, L.*
AU  - Guerreiro, R.*
AU  - Majounie, E.*
AU  - Federoff, M.*
AU  - Heutink, P.*
AU  - Wood, N.W.*
AU  - Gasser, T.*
AU  - Hardy, J.*
AU  - Tison, F.*
AU  - Singleton, A.*
AU  - Brice, A.*
AU  - International Parkinson's Disease Genomics Consortium (IPDGC) (Illig, T.
AU  - Lichtner, P.)
C1  - 48653
C2  - 41250
TI  - Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
JO  - Neurol. Genet.
VL  - 1
IS  - 1
PY  - 2015
SN  - 2376-7839
ER  -