| 1 |
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. ( 30100227
)
|
Shi CH...Xu YM
|
2019 |
| 2 |
SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. ( 30704756
)
|
Sekine SI...Hozumi I
|
2019 |
| 3 |
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells. ( 30952898
)
|
Sekine SI...Hozumi I
|
2019 |
| 4 |
Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness. ( 31080899
)
|
Demb?l? K...from The H3Africa Consortium
|
2019 |
| 5 |
Severe hypocalcaemia-related pustular psoriasis in an 83-year-old woman with Fahr's syndrome: a case report. ( 29953675
)
|
Tissier M...Groh M
|
2019 |
| 6 |
|
Koratala A...Morales Lappot J
|
2019 |
| 7 |
General anesthesia for patient with Fahr's syndrome: A case report. ( 31027134
)
|
Park S...Kim H
|
2019 |
| 8 |
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification. ( 29288724
)
|
Demiryurek BE...Gundogdu AA
|
2018 |
| 9 |
Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy? ( 29334856
)
|
Goraya JS...Ahluwalia A
|
2018 |
| 10 |
Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia. ( 29383229
)
|
Mendes EM...Guerra D
|
2018 |
| 11 |
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. ( 29578123
)
|
Ding Y...Dong HQ
|
2018 |
| 12 |
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). ( 29627011
)
|
Hozumi I...Seishima M
|
2018 |
| 13 |
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report. ( 29642163
)
|
Shi X...Wang J
|
2018 |
| 14 |
Idiopathic basal ganglia calcification associated with cerebral micro-infarcts: a case report. ( 29665789
)
|
Nishimoto T...Suzuki M
|
2018 |
| 15 |
Letter to the Editor Regarding "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714087
)
|
Chang CL...Chiu NC
|
2018 |
| 16 |
Reply to Letter on "Stroke After Minor Head Trauma in Infants and Young Children With Basal Ganglia Calcification: A Lenticulostriate Vasculopathy?" ( 29714093
)
|
Goraya JS...Berry S
|
2018 |
| 17 |
A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter. ( 30335026
)
|
Lee BD...Suh H
|
2018 |
| 18 |
A Case of Seizure Revealing Fahr's Syndrome with Primary Hypoparathyroidism. ( 30504755
)
|
Lee YJ...Park BS
|
2018 |
| 19 |
MRI Cannot Detect Calcification for the Diagnosis of Fahr's Syndrome. ( 29434144
)
|
Matsuzaka S...Serizawa Y
|
2018 |
| 20 |
Fahr's Syndrome in a Greenlandic Inuit. ( 30128421
)
|
Pedersen AT...Penninga L
|
2018 |
| 21 |
Unusual Cause of Hypotension in a Polytrauma Victim: A Case of Fahr's Syndrome. ( 30186019
)
|
Yadav A...Soni KD
|
2018 |
| 22 |
Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features. ( 30430526
)
|
El Aoud S...Abid M
|
2018 |
| 23 |
Basal ganglia calcification in a case of PKAN. ( 28024710
)
|
Fasano A...Rohani M
|
2017 |
| 24 |
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742
)
|
Song CY...Liu YM
|
2017 |
| 25 |
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286
)
|
Finsterer J...Bastowansky A
|
2017 |
| 26 |
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. ( 28477710
)
|
Rubino E...Brusco A
|
2017 |
| 27 |
Fahr disease: Idiopathic basal ganglia calcification. ( 28717437
)
|
Shahidi GA...Safdarian M
|
2017 |
| 28 |
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. ( 29034894
)
|
Sekine SI...Inoue H
|
2017 |
| 29 |
SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification. ( 26822507
)
|
Wallingford MC...Giachelli CM
|
2017 |
| 30 |
Fahr's Syndrome Misdiagnosed as Schizophrenia: A Case Report. ( 28473946
)
|
Naqvi S...Elfert KAH
|
2017 |
| 31 |
RADIOLOGY CASE OF THE MONTH: A CASE OF IDIOPATHIC BASAL GANGLIA CALCIFICATION AND BRIEF REVIEW OF THE LITERATURE. ( 26986866
)
|
Lindsey E...Copeland BJ
|
2016 |
| 32 |
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor. ( 27066848
)
|
Gandhi SE...Kobylecki C
|
2016 |
| 33 |
Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. ( 27502967
)
|
Saini AG...Singhi P
|
2016 |
| 34 |
Basal Ganglia Calcification in Psychiatric Inpatients: A Case-Control Study. ( 27662451
)
|
Mufaddel AA...Hashim MJ
|
2016 |
| 35 |
Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. ( 27777849
)
|
Takeuchi T...Hozumi I
|
2016 |
| 36 |
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification. ( 27943471
)
|
Shi CH...Xu YM
|
2016 |
| 37 |
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. ( 26635128
)
|
Kimura T...Kakita A
|
2016 |
| 38 |
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023
)
|
Li Y...Zhang YH
|
2016 |
| 39 |
Idiopathic basal ganglia calcification (Fahr's disease) and dementia. ( 26939914
)
|
Nunomura A
|
2016 |
| 40 |
EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION. ( 30226966
)
|
Salinas-Torres VM...Salinas-Torres RA
|
2016 |
| 41 |
Fahr's Syndrome and Secondary Hypoparathyroidism. ( 27141572
)
|
Dos Santos VM...Calvo IC
|
2016 |
| 42 |
Fahr's syndrome presenting with epileptic seizure: Two case reports. ( 28058390
)
|
Ongun N...Erdogan C
|
2016 |
| 43 |
Femoral neck's fracture in Fahr's Syndrome: case report. ( 28228797
)
|
Sall? M...D'Arienzo M
|
2016 |
| 44 |
|
S?nchez Sobrino P...Mart?nez Cueto P
|
2016 |
| 45 |
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27306481
)
|
Eroglu U...Unlu A
|
2016 |
| 46 |
Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. ( 27400114
)
|
Eroglu U...Unlu A
|
2016 |
| 47 |
Fahr's Disease or Fahr's Syndrome? ( 27672489
)
|
Perugula ML...Lippmann S
|
2016 |
| 48 |
Fahr's syndrome and clinical correlation: a case series and literature review. ( 27764521
)
|
Pistacchi M...Marsala SM
|
2016 |
| 49 |
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ( 25292412
)
|
Arts FA...Demoulin JB
|
2015 |
| 50 |
Effect of basal ganglia calcification on its glucose metabolism and dopaminergic function in idiopathic hypoparathyroidism. ( 25366923
)
|
Modi S...Goswami R
|
2015 |
