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1

Congenital Abnormalities of the Posterior Fossa

Bosemani, Thangamadhan, Orman, Gunes, Boltshauser, Eugen, Tekes, Aylin, Huisman, Thierry A. G. M., Poretti, Andrea

Journal:

Year:

2015

Language:

english

File:

PDF, 2.59 MB

english, 2015

2

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

Poretti, Andrea, Boltshauser, Eugen, Doherty, Dan

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 423 KB

english, 2014

3

Cerebellar and Brainstem Malformations

Poretti, Andrea, Boltshauser, Eugen, Huisman, Thierry A.G.M.

Journal:

Neuroimaging Clinics of North America

Year:

2016

Language:

english

File:

PDF, 3.44 MB

english, 2016

4

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies

Reddy, Nihaal, Calloni, Sonia F., Vernon, Hilary J., Boltshauser, Eugen, Huisman, Thierry A. G. M., Soares, Bruno P.

Journal:

Year:

2018

Language:

english

File:

PDF, 2.39 MB

english, 2018

5

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

Gabriele Wohlrab, Goekhan Uyanik, Claudia Gross, Ute Hehr, Jürgen Winkler, Bernhard Schmitt, Eugen Boltshauser

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 213 KB

english, 2005

6

The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome!

Poretti, Andrea, Boltshauser, Eugen, Valente, Enza Maria

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

7

Longitudinally extensive myelopathy in children

Sorte, Danielle Eckart, Poretti, Andrea, Newsome, Scott D., Boltshauser, Eugen, Huisman, Thierry A. G. M., Izbudak, Izlem

Journal:

Pediatric Radiology

Year:

2015

Language:

english

File:

PDF, 2.36 MB

english, 2015

8

Congenital Brain Abnormalities: An Update on Malformations of Cortical Development and Infratentorial Malformations

Poretti, Andrea, Boltshauser, Eugen, Huisman, Thierry

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

9

Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI

Amir, Tali, Poretti, Andrea, Boltshauser, Eugen, Huisman, Thierry A.G.M.

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 778 KB

english, 2016

10

Prenatal Cerebellar Disruptions

Poretti, Andrea, Boltshauser, Eugen, Huisman, Thierry A.G.M.

Journal:

Neuroimaging Clinics of North America

Year:

2016

Language:

english

File:

PDF, 2.31 MB

english, 2016

11

Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity

Toelle, Sandra, Avetisyan, Tamara, Kuyumjyan, Nune, Sukhudyan, Biayna, Boltshauser, Eugen, Hackenberg, Annette

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 316 KB

english, 2018

12

[Handbook of Clinical Neurology] The Cerebellum: From Embryology to Diagnostic Investigations Volume 154 || Laboratory investigations

Boltshauser, Eugen

Year:

2018

Language:

english

File:

PDF, 162 KB

english, 2018

13

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Chr

Journal:

Year:

2017

Language:

english

File:

PDF, 26.68 MB

english, 2017

14

Blakeʼs Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI

Kau, Thomas, Marterer, Robert, Kottke, Raimund, Birnbacher, Robert, Gellen, Janos, Nagy, Eszter, Boltshauser, Eugen

Journal:

Clinical Neuroradiology

Year:

2020

Language:

english

File:

PDF, 1.38 MB

english, 2020

15

Schwartz-Jampel syndrome type 2 and St�ve-Wiedemann syndrome: A case for ?Lumping?

Superti-Furga, Andrea, Tenconi, Romano, Clementi, Maurizio, Eich, Georg, Steinmann, Beat, Boltshauser, Eugen, Giedion, Andres

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 377 KB

english, 1998

16

Joubert syndrome: More than lower cerebellar vermis hypoplasia, less than a complex brain malformation

Eugen Boltshauser

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 27 KB

english, 2002

17

Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?

Daniel Ritscher, Dr. Albert Schinzel, Eugen Boltshauser, Jakob Briner, Urs Arbenz, Peter Sigg

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 728 KB

english, 1987

18

Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions

Eugen Boltshauser

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 421 KB

english, 2004

19

Natural history of twin disruption sequence

Andreas Zankl, Daniela Brooks, Eugen Boltshauser, Remo Largo, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

20

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Andreas Zankl, Gudrun Jaeger, Luisa Bonafé, Eugen Boltshauser, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 60 KB

english, 2004

21

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Raffaele Renella, Elke Schaefer, Martine LeMerrer, Yasemin Alanay, Nurgun Kandemir, Georg Eich, Teresa Costa, Diana Ballhausen, Eugen Boltshauser, Luisa Bonafé, Andres Giedion, Sheila Unger, Andrea Su

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 323 KB

english, 2006

22

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah E. Marsh, Marco Castori, Tracy Dixon-Salazar, Enrico Bertini, Lihadh Al-Gazali, Jean Messer, Clara Barbot, C. Geoffrey Woods, Eugen Boltshauser, Asma A. Al-Tawari, Carmelo D.

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 209 KB

english, 2005

23

Clinical and biochemical spectrum of D-bifunctional protein deficiency

Sacha Ferdinandusse, Simone Denis, Petra A. W. Mooyer, Conny Dekker, Marinus Duran, Roelineke J. Soorani-Lunsing, Eugen Boltshauser, Alfons Macaya, Jutta Gärtner, Charles B. L. M. Majoie, Peter G. Bar

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 598 KB

english, 2006

24

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy, Marco Castori, Sarah E. Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S. Zaki, Alice Abdel-Aleem, Ghada M. H. Abdel-Sala

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 431 KB

english, 2006

25

Acute ischemic stroke in children versus young adults

Sandra Bigi, Urs Fischer, Edith Wehrli, Heinrich P. Mattle, Eugen Boltshauser, Sarah Bürki, Pierre-Yves Jeannet, Joel Fluss, Peter Weber, Krassen Nedeltchev, Marwan El-Koussy, Maja Steinlin, Marcel Ar

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 122 KB

english, 2011

26

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lo

Journal:

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

27

Long-term complications and quality of life in children with intraspinal tumors

Andrea Poretti, Daniel Zehnder, Eugen Boltshauser, Michael A. Grotzer

Journal:

Pediatric Blood & Cancer

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

28

Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation

Dr Urs A. Hunziker, Guido Savoldelli, Eugen Boltshauser, Andres Giedion, Albert Schinzel

Journal:

Prenatal Diagnosis

Year:

1989

Language:

english

File:

PDF, 334 KB

english, 1989

29

Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

Eugen Boltshauser, Albert Schinzel, Werner Wichmann, Dieter Haller, Anton Valavanis

Journal:

Year:

1988

Language:

english

File:

PDF, 620 KB

english, 1988

30

Generalized giant axonal neuropathy

Jürgen Peiffer, Wolfgang Schlote, Albert Bischoff, Eugen Boltshauser, Günter Müller

Journal:

Acta Neuropathologica

Year:

1977

Language:

english

File:

PDF, 1.68 MB

english, 1977

31

Calcifying white-matter diseases

Eugen Boltshauser

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 120 KB

english, 1996

32

Pituitary duplication and nasopharyngeal teratoma in a newborn: CT, MRI, US and correlative histopathological findings

Thierry A. G. M. Huisman, Ursin Fischer, Eugen Boltshauser, Torsten Straube, Claudine Gysin

Journal:

Year:

2005

Language:

english

File:

PDF, 466 KB

english, 2005

33

Increased cerebellar volume in the early stage of fucosidosis: a case control study

Thomas Kau, Christoph Karlo, Tayfun Güngör, Viola Prietsch, Christian J. Kellenberger, Ianina Scheer, Eugen Boltshauser

Journal:

Year:

2011

Language:

english

File:

PDF, 368 KB

english, 2011

34

Facial nerve palsy—an unusual complication after evacuation of a subdural haematoma or hygroma in children

Andrea Klein, Bettina Balmer, Ulrike Brehmer, Thierry A. G. M. Huisman, Eugen Boltshauser

Journal:

Child's Nervous System

Year:

2006

Language:

english

File:

PDF, 248 KB

english, 2006

35

Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life

Tycho J. Zuzak, Andrea Poretti, Barbara Drexel, Daniel Zehnder, Eugen Boltshauser, Michael A. Grotzer

Journal:

Child's Nervous System

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

36

Magnetic toys: forbidden for pediatric patients with certain programmable shunt valves?

Tycho J. Zuzak, Bettina Balmer, Daniel Schmidig, Eugen Boltshauser, Michael A. Grotzer

Journal:

Child's Nervous System

Year:

2009

Language:

english

File:

PDF, 144 KB

english, 2009

37

Transsphenoidal extension of heterotopic glioneuronal tissue: pathoanatomic considerations in symptomatic neonates

Thomas Kau, Claudine Gysin, Hildegard Dohmen-Scheufler, Barbara Brotschi, Heinrich Schiegl, Christian J. Kellenberger, Eugen Boltshauser, Ianina Scheer

Journal:

Child's Nervous System

Year:

2011

Language:

english

File:

PDF, 369 KB

english, 2011

38

Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions

Kevin Wingeier, Sandra Bigi, Marwan El-Koussy, Theda Heinks-Maldonado, Eugen Boltshauser, Maja Steinlin

Journal:

Child's Nervous System

Year:

2011

Language:

english

File:

PDF, 283 KB

english, 2011

39

An 11-month-old boy with psychomotor regression and auto-aggressive behaviour

Christina Chrysochoou, Christoph Rutishauser, Christine Rauber-Lüthy, Thomas Neuhaus, Eugen Boltshauser, Andrea Superti-Furga

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

40

Severe neurological impairment in hereditary methaemoglobinaemia type 2

SandraP. Toelle, Eugen Boltshauser, Ekkehard Mössner, Karin Zurbriggen, Stefan Eber

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 195 KB

english, 2004

41

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of theLAMP2gene

Christian Balmer, Diana Ballhausen, Nils U. Bosshard, Beat Steinmann, Eugen Boltshauser, Urs Bauersfeld, Andrea Superti-Furga

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 411 KB

english, 2005

42

Long-term outcome of ten children with opsoclonus-myoclonus syndrome

Andrea Klein, Bernhard Schmitt, Eugen Boltshauser

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

43

Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome

Agnes Messerschmidt, Renate Fuiko, Daniela Prayer, Peter C. Brugger, Eugen Boltshauser, Gerlinde Zoder, Walter Sterniste, Michael Weber, Robert Birnbacher

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 175 KB

english, 2008

44

Does diagnostic delay result in decreased survival in paediatric brain tumours?

Karel Kukal, Milana Dobrovoljac, Eugen Boltshauser, Roland A. Ammann, Michael A. Grotzer

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 190 KB

english, 2009

45

Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria

Biayna Sukhudyan, Varsine Jaladyan, Gayane Melikyan, Jan Ulrich Schlump, Eugen Boltshauser, Andrea Poretti

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 321 KB

english, 2010

46

Outcome of craniopharyngioma in children: long-term complications and quality of life

Andrea Poretti, Michael A Grotzer, Karin Ribi, Eugen Schönle MD, Eugen Boltshauser

Journal:

Developmental Medicine & Child Neurology

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

47

Cerebral sinus venous thrombosis in Swiss children

SEBASTIAN GRUNT, KEVIN WINGEIER, EDITH WEHRLI, EUGEN BOLTSHAUSER, ANDREA CAPONE, JOEL FLUSS, DANIELLE GUBSER-MERCATI, PIERRE-YVES JEANNET, ELMAR KELLER, JEAN-PIERRE MARCOZ, THOMAS SCHMITT-MECHELKE, PE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

48

Proven Startle-provoked Epileptic Seizures in Childhood: Semiologic and Electrophysiologic Variability

Daniel Tibussek, Gabriele Wohlrab, Eugen Boltshauser, Bernhard Schmitt

Journal:

Year:

2006

Language:

english

File:

PDF, 567 KB

english, 2006

49

“Rhombencephalosynapsis Associated with Dandy-Walker Malformation” is a Molar Tooth Malformation

Andrea Poretti, Eugen Boltshauser

Journal:

Journal of Neuroimaging

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

50

Clinical utility gene card for: Joubert syndrome

Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 159 KB

english, 2011