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51

Klinefelter syndrome and neurological disease

E. Boltshauser, M. Meyer, T. Deonna

Journal:

Journal of Neurology

Year:

1978

Language:

english

File:

PDF, 389 KB

english, 1978

52

Dominant myotonia congenita: Pedigree with skipping of one generation

E. Boltshauser, M. Meyer, M. Metaxas, M. Mahler, H. Schiller

Journal:

Journal of Neurology

Year:

1980

Language:

english

File:

PDF, 195 KB

english, 1980

53

Radiographic measurements of the normal spinal cord in childhood

E. Boltshauser, R. D. Hoare

Journal:

Year:

1976

Language:

english

File:

PDF, 242 KB

english, 1976

54

MRI in Cockayne syndrome type I

E. Boltshauser, C. Yalcinkaya, W. Wichmann, F. Reutter, A. Prader, A. Valavanis

Journal:

Year:

1989

Language:

english

File:

PDF, 417 KB

english, 1989

55

Computed tomography in Pelizaeus-Merzbacher disease

A. Statz, E. Boltshauser, A. Schinzel, H. Spiess

Journal:

Year:

1981

Language:

english

File:

PDF, 613 KB

english, 1981

56

Computed tomography in neurodegenerative disorders in childhood

E. Boltshauser, H. Spiess, W. Isler

Journal:

Year:

1978

Language:

english

File:

PDF, 361 KB

english, 1978

57

Craniosynostosis in hyper-IgE-syndrome

P. H. Höger, E. Boltshauser, W. H. Hitzig

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 896 KB

english, 1985

58

Short stature: a common feature in Duchenne muscular dystrophy

U. Eiholzer, E. Boltshauser, D. Frey, L. Molinari, M. Zachmann

Journal:

European Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 339 KB

english, 1988

59

Neonatal nemaline myopathy presenting with multiple joint contractures

H. U. Bucher, E. Boltshauser, J. Briner

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 1.06 MB

english, 1985

60

Sagittal synostosis — clinical significance?

Journal:

Child's Nervous System

Year:

1989

Language:

english

File:

PDF, 55 KB

english, 1989

61

Transient bifrontal solitary periventricular cysts in term neonates

L. Thun-Hohenstein, I. Forster, C. Künzle, E. Martin, E. Boltshauser

Journal:

Year:

1994

Language:

english

File:

PDF, 840 KB

english, 1994

62

MR imaging of intracranial hemorrhage in neonates and infants at 2.35 Tesla

M. Zuerrer, E. Martin, E. Boltshauser

Journal:

Year:

1991

Language:

english

File:

PDF, 1.70 MB

english, 1991

63

Prenatal brain atrophy due to a giant vein of Galen malformation

O. Baenziger, E. Martin, U. Willi, S. Fanconi, F. Real, E. Boltshauser

Journal:

Year:

1993

Language:

english

File:

PDF, 382 KB

english, 1993

64

Early pattern recognition in severe perinatal asphyxia: a prospective MRI study

O. Baenziger, E. Martin, M. Steinlin, M. Good, R. Largo, R. Burger, S. Fanconi, G. Duc, R. Buchli, H. Rumpel, E. Boltshauser

Journal:

Year:

1993

Language:

english

File:

PDF, 1.35 MB

english, 1993

65

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

66

Triploidie als Ursache von Schwangerschaftsgestose im 2. Trimenon

A. Schinzel, K. Hayashi, W. Schmid, B. Knecht, G. Tuschy, E. Boltshauser

Journal:

Archives of Gynecology and Obstetrics

Year:

1975

File:

PDF, 1.88 MB

1975

67

A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia

F. Berthet, R. Caduff, U. B. Schaad, H. Roten, P. Tuchschmid, E. Boltshauser, R. A. Seger

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 1.21 MB

english, 1994

68

The Hoyeraal-Hreidarsson syndrome: Don't forget the associated immunodeficiency

F. Berthet, P. Tuchschmid, E. Boltshauser, R. A. Seger, C. M. Aalfs, H. van den Berg, P. G. Barth, R. C. M. Hennekam

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 110 KB

english, 1995

69

Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes

H. Seyschab, D. Schindler, R. Friedl, G. Barbi, E. Boltshauser, J. P. Fryns, F. Hanefeld, R. Korinthenberg, I. Krägeloh-Mann, J. M. J. C. Scheres, A. Schinzel, E. Seemanova, N. Tommerup, H. Hoehn

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

70

Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases

L. Thun-Hohenstein, B. Schmitt, H. Steinlin, E. Martin, E. Boltshauser

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 997 KB

english, 1992

71

Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure

E. Martin, R. Burger, O. D. Wiestler, R. Caduff, E. Boltshauser, Ch. Boesch

Journal:

Pediatric Radiology

Year:

1990

Language:

english

File:

PDF, 387 KB

english, 1990

72

Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship

M. Steinlin, E. Boltshauser, B. Steinmann, W. Wichmann, G. Niemeyer

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 704 KB

english, 1989

73

Magnetic resonance imaging of the brain in congenital cytomegalovirus infection

Ch. Boesch, J. Issakainen, G. Kewitz, R. Kikinis, E. Martin, E. Boltshauser

Journal:

Pediatric Radiology

Year:

1989

Language:

english

File:

PDF, 624 KB

english, 1989

74

Calcifying white-matter diseases

Eugen Boltshauser

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 120 KB

english, 1996

75

Progressive white-matter disease with primary cerebellar involvement: a separate entity?

C. Yalcinkaya, I. Arslanoglu, C. Islak, A. Aydin, E. Boltshauser

Journal:

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

76

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

77

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

78

Cerebellar involvement in metabolic disorders: a pattern-recognition approach

M. Steinlin, S. Blaser, E. Boltshauser

Journal:

Year:

1998

Language:

english

File:

PDF, 533 KB

english, 1998

79

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

80

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

81

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

82

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

83

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

84

Cerebellar imaging – an important signpost in paediatric neurology

Journal:

Child's Nervous System

Year:

2001

Language:

english

File:

PDF, 118 KB

english, 2001

85

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

86

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

87

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

88

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

89

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

90

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

91

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

92

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

A. Giedion, E. Boltshauser, J. Briner, G. Eich, G. Exner, H. Fendel, L. Kaufmann, B. Steinmann, J. Spranger, A. Superti-Furga

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 3.80 MB

english, 1997

93

NeonatalEscherichia colimeningitis: spinal adhesions as a late complication

M. Steinlin, B. Knecht, D. Könü, E. Martin, E. Boltshauser

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 98 KB

english, 1999

94

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

S. Kleinle, U. Wiesmann, A. Superti-Furga, S. Krähenbühl, E. Boltshauser, J. Reichen, S. Liechti-Gallati

Journal:

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

95

Moyamoya disease and Moyamoya syndrome: experience in Europe; choice of revascularisation procedures

N. Khan, B. Schuknecht, E. Boltshauser, A. Capone, A. Buck, H. G. Imhof, Y. Yonekawa

Journal:

Acta Neurochirurgica

Year:

2003

Language:

english

File:

PDF, 827 KB

english, 2003

96

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger, G Mátyás

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 244 KB

english, 2006

97

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

F Brancati, L Travaglini, D Zablocka, E Boltshauser, P Accorsi, G Montagna, JL Silhavy, G Barrano, E Bertini, F Emma, L Rigoli, The International JSRD Study Group, B Dallapiccola, JG Gleeson, EM Valen

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 149 KB

english, 2008

98

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

99

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

100

Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly

M Jaquier, A Klein, E Boltshauser

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2006

Language:

english

File:

PDF, 59 KB

english, 2006